MBChB MD DipPaed FRACP
Professor in the Department of Paediatrics
Professor Lynette Sadleir joined the Department of Paediatrics and Child Health in 1999 following the completion of an Epilepsy Fellowship at British Columbia's Children's Hospital.
In 2000 she commenced the clinical part of her joint clinical-academic appointment as a paediatric neurologist with CCDHB. In her clinical role as a paediatric epileptologist, she diagnoses and manages children with epilepsy and reports paediatric electroencephalograms for the Wellington Region.
She has an active teaching role and is passionate about increasing the epilepsy knowledge of undergraduate, postgraduate and Paediatric fellow trainees. She was a member of the International League Against Epilepsy (ILAE) Classification Commission Task Force between 2010 and 2013 and as such part of the team that wrote and developed the ILAE cutting edge online diagnostic manual of the epilepsies https://www.epilepsydiagnosis.org/.
Professor Sadleir is a physician scientist with expertise in epilepsy phenotyping. She is the Director of the Epilepsy Research Group. The Epilepsy Research Group is committed to improving the quality of life for individuals with epilepsy and their families.
Professor Sadleir served as the president of the New Zealand League Against Epilepsy from 2013 to 2019 and is now the treasurer. She is a member of both the Ministry of Health Complex Epilepsy Improvement Technical Advisory Group and the Paediatric Society's Neurology Clinical Network Clinical Reference Group. In this capacity, she co-led the development of the New Zealand Epilepsy Guidelines and Pathways for Children and Young People. She is presently the chair of the International League Against Epilepsy Budget Review Committee and a member of both the International League Against Epilepsy Clinical Genetic Testing in the Epilepsies Task Force and the SNOMED Task Force.
Research areas
Professor Sadleir founded the Epilepsy Research Group in 2007. The group undertakes research into the clinical and genetic aspects of epilepsy. The aim of the research is to better describe the epilepsies and identify the genes that cause them. The overall rationale is that by understanding the basic molecular mechanisms of the inherited epilepsies we will get a deeper understanding of the disorder, with implications for diagnosis, prognosis and development of new treatments.
Inaugural Professorial Lecture (IPL)
Professor Sadleir gave her Inaugural Professorial Lecture on 13 November, 2019 on 'Epilepsy: Teams, genes and dreams'.
Publications
Josephson, C. B., Aronica, E., Beniczky, S., Boyce, D., Cavalleri, G., Denaxas, S., … Sadleir, L., … on behalf of the ILAE Big Data Commission. (2024). Big data research is everyone's research: Making epilepsy data science accessible to the global community: Report of the ILAE big data commission. Epileptic Disorders. Advance online publication. [Review]. Journal - Research Other
Epi25 Collaborative, including Sadleir, L. G. (2024). Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience, 27, 1864-1879. doi: 10.1038/s41593-024-01747-8 Journal - Research Article
Banks, E., Francis, V., Lin, S.-J., Kharfallah, F., Fonov, V., Lévesque, M., … Hosokawa, A., … Nyaga, D. M., … Sadleir, L. G., … McPherson, P. S. (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature Communications, 15, 7239. doi: 10.1038/s41467-024-51310-z Journal - Research Article
LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., … Nyaga, D. M., Lieffering, N., … Sadleir, L. G., … Mefford, H. C. (2024). Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature Communications, 15(1), 6524. doi: 10.1038/s41467-024-50159-6 Journal - Research Article
Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., … Sadleir, L. G., … Scheffer, I. E. (2024). Solving the etiology of developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS). Annals of Neurology. Advance online publication. doi: 10.1002/ana.27041 Journal - Research Article
2024
Journal - Research Article
Epi25 Collaborative, including Sadleir, L. G. (2024). Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience, 27, 1864-1879. doi: 10.1038/s41593-024-01747-8
Banks, E., Francis, V., Lin, S.-J., Kharfallah, F., Fonov, V., Lévesque, M., … Hosokawa, A., … Nyaga, D. M., … Sadleir, L. G., … McPherson, P. S. (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature Communications, 15, 7239. doi: 10.1038/s41467-024-51310-z
LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., … Nyaga, D. M., Lieffering, N., … Sadleir, L. G., … Mefford, H. C. (2024). Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature Communications, 15(1), 6524. doi: 10.1038/s41467-024-50159-6
Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., … Sadleir, L. G., … Scheffer, I. E. (2024). Solving the etiology of developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS). Annals of Neurology. Advance online publication. doi: 10.1002/ana.27041
Young, E., Harris, R., Lieffering, N., de Valles-Ibáñez, G., Nyaga, D., Bennett, M. F., … Sadleir, L. G. (2024). SCN8A self-limited infantile epilepsy: Does epilepsy resolve? Epilepsia. Advance online publication. doi: 10.1111/epi.18016
Ellis, C. A., Tu, D., Oliver, K. L., Mefford, H. C., Hauser, W. A., Buchhalter, J., … Epi4K Consortium, including Sadleir, L. G., … Ottman, R. (2024). Familial aggregation of seizure outcomes in four familial epilepsy cohorts. Epilepsia. Advance online publication. doi: 10.1111/epi.18004
Epi4K Consortium, including Sadleir, L. G. (2024). The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia. Advance online publication. doi: 10.1111/epi.17860
Xu, Z., Sadleir, L., Goel, H., Jiao, X., Niu, Y., Zhou, Z., … Yang, Z. (2024). Genotype and phenotype correlation of PHACTR1-related neurological disorders. Journal of Medical Genetics. Advance online publication. doi: 10.1136/jmg-2023-109638
Nyaga, D. M., Hildebrand, M. S., de Valles-Ibáñez, G., Keenan, N. F., Ye, Z., LaFlamme, C. W., … Sadleir, L. G. (2024). Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Epilepsia Open, 9(2), 758, 764. doi: 10.1002/epi4.12887
Journal - Research Other
Josephson, C. B., Aronica, E., Beniczky, S., Boyce, D., Cavalleri, G., Denaxas, S., … Sadleir, L., … on behalf of the ILAE Big Data Commission. (2024). Big data research is everyone's research: Making epilepsy data science accessible to the global community: Report of the ILAE big data commission. Epileptic Disorders. Advance online publication. [Review].
Conference Contribution - Published proceedings: Abstract
Keenan, N. F., Davis, S., Andersen, E., Aitchison, S. G., Ali, S., Stairmand, J., Stanley, J., & Sadleir, L. G. (2024). Ethnic disparities in epilepsy: A population-based study of Māori and non-Māori-non-Pasifika children with epilepsy. Journal of Paediatrics & Child Health, 60(Suppl. 2), (pp. 7). doi: 10.1111/jpc.4_16543
2023
Journal - Research Article
Bundalian, L., Su, Y.-Y., Chen, S., Velluva, A., Kirstein, A. S., Garten, A., … Epi25 Collaborative, including Sadleir, L. G. (2023). Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. American Journal of Human Genetics, 110, 1110-1122. doi: 10.1016/j.ajhg.2023.06.004
International League Against Epilepsy Consortium on Complex Epilepsies, including Sadleir, L. G. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics, 55, 1471-1482. doi: 10.1038/s41588-023-01485-w
Montanucci, L., Lewis-Smith, D., Collins, R. L., Niestroj, L.-M., Parthasarathy, S., Xian, J., … Epi25 Collaborative, including Sadleir, L. G., … Lal, D. (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14, 4392. doi: 10.1038/s41467-023-39539-6
Harris, R. V., Oliver, K. L., Perucca, P., Striano, P., Labate, A., Riva, A., … Sadleir, L. G., … Berkovic, S. F. (2023). Familial mesial temporal lobe epilepsy: Clinical spectrum and genetic evidence for a polygenic architecture. Annals of Neurology. Advance online publication. doi: 10.1002/ana.26765
Ali, S., Stanley, J., Davis, S., Keenan, N., Scheffer, I. E., & Sadleir, L. G. (2023). Indications and prescribing patterns of antiseizure medications in children in New Zealand. Developmental Medicine & Child Neurology. Advance online publication. doi: 10.1111/dmcn.15546
Poke, G., Stanley, J., Scheffer, I. E., & Sadleir, L. G. (2023). Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children. Neurology, 100(13), e1363-e1375. doi: 10.1212/wnl.0000000000206758
Conference Contribution - Published proceedings: Abstract
Hammer, T. B., Aledo-Serrano, A., Argilli, E., Bonardi, C. M., Boerkoel, C. F., Bierhals, T., … Sadleir, L., … TRIO-gene Study Group, including Jones, B. (2023). The clinical and genetic spectrum of TRIO-gene related neurodevelopmental disorder. Epilepsia, 64(Suppl. 2), (pp. 371-372). doi: 10.1111/epi.17787
Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S., … Sadleir, L., … Peeters, H. (2023). De novo missense variants in the E3 ubiquitin ligase adaptor KLH20 causes a developmental disorder with intellectual disability, epilepsy and autism spectrum disorder. European Journal of Human Genetics, 31(Suppl. 1), (pp. 8-9). doi: 10.1038/s41431-023-01337-5
2022
Journal - Research Article
Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., … Carvill, G. L. (2022). Neurodevelopmental and epilepsy phenotypes in individuals with missense variants in the voltage sensing and pore domain of KCNH5. Neurology, 100(6), e603-e615. doi: 10.1212/wnl.0000000000201492
Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S. F., … Sadleir, L. G., … Peeters, H. (2022). De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. Genetics in Medicine, 24(12), 2464-2474. doi: 10.1016/j.gim.2022.08.020
Katsanis, N., Matyakhina, L., Neale, B. M., Sanders, D., Warren, S., Hodge, J. C., … Epi25 Consortium, including Sadleir, L., … Janze, A. (2022). A cross-disorder dosage sensitivity map of the human genome. Cell, 185, 3041-3055. doi: 10.1016/j.cell.2022.06.036
Krey, I., Platzer, K., Esterhuizen, A., Berkovic, S. F., Helbig, I., Hildebrand, M. S., … Sadleir, L., … on behalf of the ILAE Genetics Commission and the Task Force on Clinical Genetic Testing in the Epilepsies (2022). Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disorders, 24(5), 1-22. doi: 10.1684/epd.2022.1448
Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., … Epi25 Collaborative, including Sadleir, L. (2022). The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine, 81, 104098. doi: 10.1016/j.ebiom.2022.104098
Oliver, K. L., Ellis, C. A., Scheffer, I. E., Ganesan, S., Leu, C., Sadleir, L. G., … Berkovic, S. F. (2022). Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine, 81, 104079. doi: 10.1016/j.ebiom.2022.104079
Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., … Sadleir, L. G. (2022). PIGN encephalopathy: Characterizing the epileptology. Epilepsia, 63, 974-991. doi: 10.1111/epi.17173
Green, T. E., Motelow, J. E., Bennett, M. F., Ye, Z., Bennett, C. A., Griffin, N. G., … Sadleir, L. G., … Hildebrand, M. S. (2022). Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human Molecular Genetics, 31(14), 2307-2316. doi: 10.1093/hmg/ddab366
Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., … Epilepsy Phenome/Genome Project, including Sadleir, L. G., … EuroEPINOMICS-CoGIE Consortium. (2022). Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Epilepsia, 63, 723-735. doi: 10.1111/epi.17166
de Valles-Ibáñez, G., Hildebrand, M. S., Bahlo, M., King, C., Coleman, M., Green, T. E., … Sadleir, L. G. (2022). Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. Epilepsia Open, 7, 170-180. doi: 10.1002/epi4.12553
Journal - Research Other
Sahly, A. N., Shevell, M., Sadleir, L. G., & Myers, K. A. (2022). SUDEP risk and autonomic dysfunction in genetic epilepsies. Autonomic Neuroscience, 237, 102907. doi: 10.1016/j.autneu.2021.102907
2021
Chapter in Book - Research
Poke, G., Sadleir, L. G., Merla, G., de Valles-Ibáñez, G., & Skinner, J. R. (2021). GNB5-related neurodevelopmental disorder. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews. Seattle, WA: University of Washington. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK573218/
Journal - Research Article
Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P., … Epi25 Collaborative, including Sadleir, L. G. (2021). Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine, 72, 103588. doi: 10.1016/j.ebiom.2021.103588
Ali, S., Stanley, J., Davis, S., Keenan, N., Scheffer, I., & Sadleir, L. G. (2021). Epidemiology of treated epilepsy in New Zealand children: A focus on ethnicity. Neurology, 97(19), e1933-e1941. doi: 10.1212/wnl.0000000000012784
Scheffer, I. E., Hulihan, J., Messenheimer, J., Ali, S., Keenan, N., Griesser, J., … Sadleir, L. G. (2021). Safety and tolerability of transdermal cannabidiol gel in children with developmental and epileptic encephalopathies: A nonrandomized controlled trial. JAMA Network Open, 4(9), e2123930. doi: 10.1001/jamanetworkopen.2021.23930
Stevelink, R., Luykx, J. J., Lin, B. D., Leu, C., Lal, D., Smith, A. W., … Epi25 Collaborative, including Sadleir, L. G. (2021). Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia, 62, 1518-1527. doi: 10.1111/epi.16922
Epi25 Collaborative, including Sadleir, L. G. (2021). Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. American Journal of Human Genetics, 108, 965-982. doi: 10.1016/j.ajhg.2021.04.009
Epilepsy Phenome/Genome Project, Epi4K Consortium, including Sadleir, L. (2021). Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia, 62, 973-983. doi: 10.1111/epi.16854
Jeffrey, J. S., Leathem, J., King, C., Mefford, H. C., Ross, K., & Sadleir, L. G. (2021). Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families. Epilepsia Open, 6, 149-159. doi: 10.1002/epi4.12458
Datta, A. N., Bahi-Buisson, N., Bienvenu, T., Buerki, S. E., Gardiner, F., Cross, J. H., … Sadleir, L. G., … Lemke, J. R. (2021). The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia, 62, 325-334. doi: 10.1111/epi.16761
Myers, K. A., Bennett, M. F., Grinton, B. E., Dabscheck, G., Chan, E. K., Bello-Espinosa, L. E., Sadleir, L. G., … Scheffer, I. E. (2021). Contribution of rare genetic variants to drug response in absence epilepsy. Epilepsy Research, 170, 106537. doi: 10.1016/j.eplepsyres.2020.106537
Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., … Sadleir, L. G., … Scheffer, I. E. (2021). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns. Genetics in Medicine, 23(2), 363-373. doi: 10.1038/s41436-020-00988-9
Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Siddharth, B., … Day, R., … Sadleir, L. G., … Rauch, A. (2021). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine, 23(3), 543-554. doi: 10.1038/s41436-020-01011-x
2020
Chapter in Book - Research
Kolc, K. L., Møller, R. S., Sadleir, L. G., Scheffer, I. E., Kumar, R., & Gecz, J. (2020). PCDH19 pathogenic variants in males: Expanding the phenotypic spectrum. In K. Turksen (Ed.), Cell biology and translational medicine (Vol. 10): Stem cells in tissue regeneration: Advances in experimental medicine and biology (Vol. 1298). (pp. 177-187). Cham, Switzerland: Springer. doi: 10.1007/5584_2020_574
Journal - Research Article
Ellis, C. A., Ottman, R., Epstein, M. P., Berkovic, S. F., Epi4K Consortium, including Sadleir, L. G. (2020). Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors. Epilepsia, 61(12), 2667-2674. doi: 10.1111/epi.16732
Galer, P. D., Ganesan, S., Lewis-Smith, D., McKeown, S. E., Pendziwiat, M., Helbig, K. L., … the EPGP Investigators, including Sadleir, L., … Helbig, I. (2020). Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies. American Journal of Human Genetics, 107, 683-697. doi: 10.1016/j.ajhg.2020.08.003
Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Epi25 Collaborative, including Sadleir, L. G., … Daly, M. J. (2020). Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine, 12, eaay6848. doi: 10.1126/scitranslmed.aay6848
Weisenberg, J. L. Z., Fitzgerald, R. T., Constantino, J. N., Winawer, M. R., Thio, L. L., for the EPGP Investigators, including Sadleir, L. G. (2020). Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology, 95, e2140-e2149. doi: 10.1212/WNL.0000000000010708
Bar, C., Kuchenbuch, M., Barcia, G., Schneider, A., Jennesson, M., Le Guyader, G., … Sadleir, L. G., … Nabbout, R. (2020). Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia, 61, 2461-2473. doi: 10.1111/epi.16679
Niestroj, L.-M., Perez-Palma, E., Howrigan, D. P., Zhou, Y., Cheng, F., Saarentaus, E., … on behalf of the Epi25 Collaborative, including Sadleir, L. G. (2020). Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain, 143, 2106-2118. doi: 10.1093/brain/awaa171
Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., … Gecz, J. (2020). A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy. Translational Psychiatry, 10(1), 127. doi: 10.1038/s41398-020-0803-0
Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., … Sadleir, L. G., … Kruer, M. C. (2020). Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Human Mutation, 41, 1263-1279. doi: 10.1002/humu.24015
Sadleir, L. G., de Valles-Ibáñez, G., King, C., Coleman, M., Mossman, S., Paterson, S., … Scheffer, I. E. (2020). Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy [Brief communication]. Epilepsia, 61, e23-e29. doi: 10.1111/epi.16475
Sadleir, L. G., Kolc, K. L., King, C., Mefford, H. C., Dale, R. C., Gecz, J., & Scheffer, I. E. (2020). Levetiracetam efficacy in PCDH19 girls clustering epilepsy. European Journal of Paediatric Neurology, 24, 142-147. doi: 10.1016/j.ejpn.2019.12.020
Ellis, C. A., Berkovic, S. F., Epstein, M. P., Ottman, R., for the Epi4K Consortium, including Sadleir, L. G. (2020). The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence. Annals of Neurology, 87(1), 132-138. doi: 10.1002/ana.25625
Bar, C., Barcia, G., Jennesson, M., Le Guyader, G., Schneider, A., Mignot, C., … Sadleir, L. G., … Nabbout, R. (2020). Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Human Mutation, 41, 69-80. doi: 10.1002/humu.23915
Journal - Research Other
Bleakley, L. E., Soh, M. S., Bagnall, R. D., Sadleir, L. G., Gooley, S., Semsarian, C., … Reid, C. A. (2020). Are variants causing cardiac arrhythmia risk factors in sudden unexpected death in epilepsy? Frontiers in Neurology, 11, 925. doi: 10.3389/fneur.2020.00925
Conference Contribution - Published proceedings: Abstract
Gecz, J., Kolc, K., Sadleir, L., Depienne, C., Marini, C., Scheffer, I. E., … Roberts, R. (2020). Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics. European Journal of Human Genetics, 28(Suppl. 1), (pp. 72). doi: 10.1038/s41431-020-00740-6
Begemann, A., Sticht, H., McWalter, K., Vitobello, A., Faivre, L., Alhaddad, B., … Day, R., … Sadleir, L., … Rauch, A. (2020). Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics. European Journal of Human Genetics, 28(Suppl. 1), (pp. 329-331). doi: 10.1038/s41431-020-00739-z
Scheffer, I., Hulihan, J., Messenheimer, J., Ali, S., Davis, S., Gutterman, D., … Sadleir, L. (2020). Cannabidiol transdermal gel in children and adolescents with developmental and epileptic encephalopathies: An open-label clinical trial. Neurology, 94(15, Suppl.), 1631. [Abstract]
2019
Journal - Research Article
Epi4K Consortium, including Paterson, S., & Sadleir, L. G. (2019). Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies. Epilepsia, 60(11), 2194-2203. doi: 10.1111/epi.16354
Florian, R., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., … Sadleir, L. G., … Zara, F. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nature Communications, 10, 4919. doi: 10.1038/s41467-019-12763-9
Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., … Sadleir, L. G., … Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications, 10, 4920. doi: 10.1038/s41467-019-12671-y
Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., Ferguson, L., … Epi25 Consortium, including Sadleir, L. G., King, C., Mountier, E., & Lal, D. (2019). Polygenic burden in focal and generalized epilepsies. Brain, 142, 3473-3481. doi: 10.1093/brain/awz292
Poke, G., King, C., Muir, A., de Valles-Ibáñez, G., Germano, M., de Souza, C. F. M., … Stanley, T., … Sadleir, L. G. (2019). The epileptology of GNB5 encephalopathy. Epilepsia, 60, e121-e127. doi: 10.1111/epi.16372
Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., … Sadleir, L. G., … Scheffer, I. E. (2019). The genetic landscape of epilepsy of infancy with migrating focal seizures. Annals of Neurology, 86(6), 821-831. doi: 10.1002/ana.25619
Osborne, J. P., Edwards, S. W., Dietrich Alber, F., Hancock, E., Johnson, A. L., Kennedy, C. R., … on behalf of the participating investigators, including Sadleir, L. (2019). The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS). Epilepsia, 60, 1861-1869. doi: 10.1111/epi.16305
Myers, K. A., van 't Hof, F. N. G., Sadleir, L. G., Legault, G., Simard-Tremblay, E., Amor, D. J., & Scheffer, I. E. (2019). Fragile females: Case series of epilepsy in girls with FMR1 disruption. Pediatrics, 144(3), e20190599. doi: 10.1542/peds.2019-0599
Epi25 Collaborative, including Sadleir, L. G., King, C., & Mountier, E. (2019). Ultra-rare genetic variation in the epilepsies: A whole-exome sequencing study of 17,606 individuals. American Journal of Human Genetics, 105, 267-282. doi: 10.1016/j.ajhg.2019.05.020
Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., … Cilio, M. R. (2019). Autism and developmental disability caused by KCNQ3 gain-of-function variants. Annals of Neurology, 86(2), 181-192. doi: 10.1002/ana.25522
Ellis, C. A., Churilov, L., Epstein, M. P., Xie, S. X., Bellows, S. T., Ottoman, R., … for the Epi4K Consortium, including Sadleir, L. G. (2019). Epilepsy in families: Age at onset is a familial trait, independent of syndrome. Annals of Neurology, 86(1), 91-98. doi: 10.1002/ana.25499
Vlaskamp, D. R. M., Bassett, A. S., Sullivan, J. E., Robblee, J., Sadleir, L. G., Scheffer, I. E., & Andrade, D. M. (2019). Schizophrenia is a later‐onset feature of PCDH19 girls clustering epilepsy. Epilepsia, 60(3), 429-440. doi: 10.1111/epi.14678
Kolc, K. L., Sadleir, L. G., Scheffer, I. E., Ivancevic, A., Roberts, R., Pham, D., & Gecz, J. (2019). A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Molecular Psychiatry, 24, 241-251. doi: 10.1038/s41380-018-0066-9
Journal - Research Other
Malerba, N., Benzoni, P., Squeo, G. M., Milanesi, R., Giannetti, F., Sadleir, L. G., Poke, G., … Merla, G. (2019). Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line [Lab resource]. Stem Cell Research, 40, 101547. doi: 10.1016/j.scr.2019.101547
Muir, A. M., King, C., Schneider, A. L., Buttar, A. S., Scheffer, I. E., Sadleir, L. G., & Mefford, H. C. (2019). Double somatic mosaicism in a child with Dravet syndrome [Scientific note]. Neurology Genetics, 5(3), e333. doi: 10.1212/nxg.0000000000000333
Ali, S., Scheffer, I. E., & Sadleir, L. G. (2019). Efficacy of cannabinoids in paediatric epilepsy [Invited]. Developmental Medicine & Child Neurology, 61, 13-18. doi: 10.1111/dmcn.14087
Conference Contribution - Published proceedings: Abstract
Corbett, M., Kroes, T., Veneziano, L., Bennett, M., Schneider, A., Coppola, A., … Sadleir, L., … Gecz, J. (2019). Expansions of a pentameric intronic ATTTC repeat in STARD7 lead to familial adult myoclonic epilepsy linked to chromosome 2. Proceedings of the 39th Australasian Neuroscience Society (ANS) Annual Scientific Meeting. 12188. Retrieved from https://www.ans.org.au
Ali, S., Stanley, J., Scheffer, I. E., & Sadleir, L. G. (2019). Anti-epileptic drug prescribing and prevalence of epilepsy in New Zealand children. Epilepsia, 60(Suppl. 2), (pp. 160). doi: 10.1111/epi.16336
Bennett, M. F., Tankard, R. M., Bennett, C. A., Schneider, A. L., Regan, B. M., Damiano, J. A., … Sadleir, L. G., … Bahlo, M. (2019). Repeat expansion disorders enriched in an Australian and New Zealand Epi25 Year 1 epilepsy cohort. Epilepsia, 60(Suppl. 2), (pp. 7-8). doi: 10.1111/epi.16336
Gecz, J., Afawi, Z., Bahlo, M., Bennett, M. F., Berkovic, S. F., Bisulli, F., … Sadleir, L., … The Fame Consortium. (2019). Intronic expansions of an ATTTC pentamer in the STARD7 gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2). European Journal of Human Genetics, 27(Suppl. 2), (pp. 1083-1084). doi: 10.1038/s41431-019-0492-4
Other Research Output
Sadleir, L. (2019, November). Epilepsy: Teams, genes and dreams. University of Otago, Wellington, New Zealand. [Inaugural Professorial Lecture].
Kolc, K., Gecz, J., Palmer, E., Schefer, I., Sadleir, L. (2019). PCDH19: Human Disease Gene Website Series. Retrieved from https://humandiseasegenes.nl/pcdh19
2018
Journal - Research Article
Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., . . ., Sadleir, L. G., … Mefford, H. C. (2018). De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. American Journal of Human Genetics, 103, 666-678. doi: 10.1016/j.ajhg.2018.09.006
O’Callaghan, F. J. K., Edwards, S. W., Dietrich Alber, F., Cortina Borja, M., Hancock, E., Johnson, A. L., … on behalf of the International Collaborative Infantile Spasms Study (ICISS) investigators, including Sadleir, L. (2018). Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child & Adolescent Health, 2(10), 715-725. doi: 10.1016/S2352-4642(18)30244-X
Gregor, A., Sadleir, L. G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Bomme Ousager, L., … Zweier, C. (2018). De novo variants in the F-Box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. American Journal of Human Genetics, 103(2), 305-316. doi: 10.1016/j.ajhg.2018.07.003
Myers, K. A., Bello-Espinosa, L. E., Symonds, J. D., Zuberi, S. M., Clegg, R., Sadleir, L. G., … Scheffer, I. E. (2018). Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk. Epilepsia, 59(7), 1372-1380. doi: 10.1111/epi.14438
Journal - Research Other
Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., … Sadleir, L. G., … Mefford, H. C. (2018). Parental mosaicism in "de novo" epileptic encephalopathies. New England Journal of Medicine, 378(17), 1646-1648. doi: 10.1056/NEJMc1714579
Conference Contribution - Published proceedings: Abstract
Ali, S., Stanley, J., Flynn, H., Scheffer, I. E., & Sadleir, L. G. (2018). Paediatric epilepsy in New Zealand: A study of AED prescribing. Proceedings of the 4th Pharmacoepidemiology Research Network Symposium. (pp. 26-27). Retrieved from https://www.otago.ac.nz/pharmacoepidemiology
Scheffer, I., Vlaskamp, D., Bassett, A., Robblee, J., Sullivan, J., Sadleir, L., & Andrade, D. (2018). PCDH19 Girls Clustering Epilepsy carries significant risk of psychotic disorder after childhood. Epilepsia, 59(Suppl. 3), (pp. S348-S349). doi: 10.1111/epi.14612
Other Research Output
Sadleir, L. (2018, June). From demons to exorcism to gene mutations and targeted therapy: Where scientific research has taken our understanding and treatment of epilepsy. Dunedin Public Library, Dunedin, New Zealand. [Research Presentation].
2017
Journal - Research Article
Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., … Sadleir, L. G., … Michaud, J. L. (2017). High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. American Journal of Human Genetics, 101, 664-685. doi: 10.1016/j.ajhg.2017.09.008
Bergin, P. S., Beghi, E., Sadleir, L. G., Tripathi, M., Richardson, M. P., Bianchi, E., … EpiNet Study Group, including Ranta, A. (2017). Do neurologists around the world agree when diagnosing epilepsy?: Results of an international EpiNet study. Epilepsy Research, 139, 43-50. doi: 10.1016/j.eplepsyres.2017.10.014
Myers, C. T., Stong, N., Mountier, E. I., Helbig, K. L., Freytag, S., Sullivan, J. E., … Sadleir, L. G., … Heinzen, E. L. (2017). De novo mutations in PPP3CA cause severe neurodevelopmental disease with seizures. American Journal of Human Genetics, 101(4), 516-524. doi: 10.1016/j.ajhg.2017.08.013
Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., … Scheffer, I. E. (2017). Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology, 89(10), 1035-1042. doi: 10.1212/wnl.0000000000004331
Epi4K Consortium, including Sadleir, L. G. (2017). Phenotypic analysis of 303 multiplex families with common epilepsies. Brain, 140(2), 2144-2156. doi: 10.1093/brain/awx129
Tobochnik, S., Fahlstrom, R., Shain, C., Winawer, M. R., for the EPGP Investigators, including Sadleir, L. (2017). Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project. Neurology, 89(1), 22-28. doi: 10.1212/WNL.0000000000004052
Devinsky, O., Cross, H., Laux, L., Marsh, E., Miller, I., Nabbout, R., … for the Cannabidiol in Dravet Syndrome Study Group, including Sadleir, L. (2017). Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. New England Journal of Medicine, 376(21), 2011-2020. doi: 10.1056/NEJMoa1611618
Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., … Sadleir, L., … Lemke, J. R. (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics, 54(7), 460-470. doi: 10.1136/jmedgenet-2016-104509
O’Callaghan, F. J. K., Edwards, S. W., Dietrich Alber, F., Hancock, E., Johnson, A. L., Kennedy, C. R., … on behalf of the participating investigators, including Sadleir, L. (2017). Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): A randomised, multicentre, open-label trial. Lancet Neurology, 16(1), 33-42. doi: 10.1016/S1474-4422(16)30294-0
Epi4K Consortium, and the EPGP Investigators, including Sadleir, L. G. (2017). Ultra-rare genetic variation in common epilepsies: A case-control sequencing study. Lancet Neurology, 16(2), 135-143. doi: 10.1016/S1474-4422(16)30359-3
Bergin, P. S., Beghi, E., Sadleir, L. G., Brockington, A., Tripathi, M., Richardson, M. P., … Rosemergy, I., … on behalf of the EpiNet Study Group, including Ranta, A. (2017). EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process. Epilepsia Open, 2(1), 20-31. doi: 10.1002/epi4.12033
Conference Contribution - Published proceedings: Abstract
Muir, A. M., Boysen, K., Hollingsworth, G., King, C., Schneider, A., U.W. Center for Mendelian Genomics, Sadleir, L., … Mefford, H. C. (2017). An integrated whole-genome, whole-transcriptome approach to genetic diagnosis in developmental and epileptic encephalopathies. Proceedings of the American Epilepsy Society Annual Meeting. 1.376. Retrieved from https://www.aesnet.org/meetings_events/annual_meeting_abstracts/view/345199
Howrigan, D., on behalf of the Epi25k Consortium, including Sadleir, L. (2017). Epilepsy: Whole exome sequencing of 6K cases and 14K controls confirms a significant role for ultra-rare deleterious coding variants. Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. 308. Retrieved from http://www.ashg.org/2017meeting/
Myers, C., Mehaffey, M., Schneider, A., Hollingsworth, G., Rosen, A., LaCroix, A., … Sadleir, L., … Mefford, H. (2017). The genetic landscape of the epilepsy-aphasia spectrum disorders. Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. 976. Retrieved from http://www.ashg.org/2017meeting/
Muir, A. M., Boysen, K., Hollingsworth, G., King, C., Schneider, A. L., U.W. Center for Mendelian Genomics, Sadleir, L. G., … Mefford, H. C. (2017). An integrated whole-genome, whole-transcriptome approach to genetic diagnosis in developmental and epileptic encephalopathies. Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. 975. Retrieved from http://www.ashg.org/2017meeting/
Sadleir, L. (2017). The genetic landscape of the epileptic encephalopathies of infancy and childhood. Pathology, 49 (Suppl. 1), (pp. S32). doi: 10.1016/j.pathol.2016.12.079
Other Research Output
Davis, S. Sadleir, L. Anderson, E. Dickson, C. Nolan, M., O'Grady, G, ... Spooner, C. (2017). Epilepsy: Guidelines and pathways for children and young people. Retrieved from https://www.starship.org.nz/for-health-professionals/new-zealand-child-and-youth-clinical-networks/paediatric-neurology-clinical-network/epilepsy/
2016
Chapter in Book - Research
Sadleir, L. G., Gecz, J., & Scheffer, I. E. (2016). Epilepsies that occur predominantly in girls. In M. V. Johnston, H. P. Adams & A. Fatemi (Eds.), Neurobiology of disease. (2nd ed.) (pp. 307-311). New York, NY: Oxford University Press.
Journal - Research Article
Chong, D. J., Dugan, P., and the EPGP Investigators, including Sadleir, L. (2016). Ictal fear: Associations with age, gender, and other experiential phenomena. Epilepsy & Behavior, 62, 153-158. doi: 10.1016/j.yebeh.2016.05.017
Epi4K Consortium, including Sadleir, L. G. (2016). De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. American Journal of Human Genetics, 99(2), 287-298. doi: 10.1016/j.ajhg.2016.06.003
Hildebrand, M. S., Griffin, N. G., Damiano, J. A., Cops, E. J., Burgess, R., Ozturk, E., … Sadleir, L. G., … Heinzen, E. L. (2016). Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy. American Journal of Human Genetics, 99, 423-429. doi: 10.1016/j.ajhg.2016.05.031
Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Sze, Y., Heron, S. E., … Epilepsy Electroclinical Study Group, including Stanley, T., Sadleir, L., … Dibbens, L. M. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131. doi: 10.1002/ana.24547
Liu, Y.-C., Lee, J. W. A., Bellows, S. T., Damiano, J. A., Mullen, S. A., Berkovic, S. F., … Clinical Group, including Sadleir, L. G. (2016). Evaluation of non-coding variation in GLUT1 deficiency. Developmental Medicine & Child Neurology, 58(12), 1295-1302. doi: 10.1111/dmcn.13163
Winawer, M. R., Shih, J., Beck, E. S., Hunter, J. E., Epstein, M. P., and the EPGP Investigators, including Sadleir, L. (2016). Genetic effects on sleep/wake variation of seizures. Epilepsia, 57(4), 557-565. doi: 10.1111/epi.13330
Ha, T. T., Sadleir, L. G., Mandelstam, S. A., Paterson, S. J., Scheffer, I. E., Gecz, J., & Corbett, M. A. (2016). A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. American Journal of Medical Genetics Part A, 170(4), 1059-1063. doi: 10.1002/ajmg.a.37527
Bagnall, R. D., Crompton, D. E., Petrovski, S., Lam, L., Cutmore, C., Garry, S. I., Sadleir, L. G., … Semsarian, C. (2016). Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of Neurology, 79(4), 522-534. doi: 10.1002/ana.24596
Journal - Research Other
Cooper, M. S., McIntosh, A., Crompton, D. E., McMahon, J. M., Schneider, A., Farrell, K., … Sadleir, L., … Scheffer, I. E. (2016). Mortality in Dravet syndrome [Short communication]. Epilepsy Research, 128, 43-47. doi: 10.1016/j.eplepsyres.2016.10.006
Conference Contribution - Published proceedings: Abstract
Bellows, S. T., Epi4K Consortium, including Sadleir, L. G. (2016). Phenotypic analysis of 303 multiplex families with common epilepsies. Proceedings of the American Epilepsy Society (AES) Annual Meeting. 2.065. Retrieved from https://www.aesnet.org/
Sadleir, L. G., Mountier, E., Gill, D., Davis, S., Joshi, C., DeVile, C., … Scheffer, I. (2016). Novel SCN1A phenotype with hotspot mutation: Early profound developmental epileptic encephalopathy with movement disorder. Proceedings of the American Epilepsy Society (AES) Annual Meeting. 1.159. Retrieved from https://www.aesnet.org/
Myers, C. T., Thuesmunn, Z., Muir, A. M., Hollingsworth, G., Schneider, A., Carvill, G. L., … Sadleir, L. G., … Mefford, H. C. (2016). Frequency of mosaicism in parents of children with epileptic encephalopathies. Proceedings of the American Epilepsy Society (AES) Annual Meeting. 1.335. Retrieved from https://www.aesnet.org/
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2016, August-September). Genetics of epileptic encephalopathies: A 2016 update. Verbal presentation at the Australia and New Zealand Child Neurology Society (ANZCNS) Annual Meeting, Auckland, New Zealand.
2015
Journal - Research Article
McGovern, K., Karn, C. F., Fox, K., and the EPGP Investigators, including Sadleir, L. (2015). Surpassing the target: How a recruitment campaign transformed the participant accrual trajectory in the Epilepsy Phenome/Genome Project. Clinical & Translational Science, 8(5), 518-525. doi: 10.1111/cts.12307
Fallil, Z., Pardoe, H., Bachman, R., Cunningham, B., Parulkar, I., Shain, C., … for the EPGP Investigators, including Sadleir, L. (2015). Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy & Behavior, 51, 321-327. doi: 10.1016/j.yebeh.2015.07.041
Leu, C., Balestrini, S., Maher, B., Hernández-Hemández, L., Gormley, P., Hämäläinen, E., … Sadleir, L. G., … Sisodiya, S. M. (2015). Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy. EBioMedicine, 2(9), 1063-1070. doi: 10.1016/j.ebiom.2015.07.005
Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D. H., Leach, D., … Sadleir, L., … Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics, 24(18), 5250-5259. doi: 10.1093/hmg/ddv245
Sadleir, L. G., Paterson, S., Smith, K. R., Redshaw, N., Ranta, A., Kalnins, R., … Scheffer, I. E. (2015). Myoclonic Occipital Photosensitive Epilepsy with Dystonia (MOPED): A familial epilepsy syndrome. Epilepsy Research, 114, 98-105. doi: 10.1016/j.eplepsyres.2015.04.014
Keenan, N., & Sadleir, L. G. (2015). Paediatric EEG provision in New Zealand: A survey of practice. New Zealand Medical Journal, 128(1411). Retrieved from https://www.nzma.org.nz/journal
Galizia, E. C., Myers, C. T., Leu, C., de Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., … Sadleir, L. G., … Sisodiya, S. M. (2015). CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain, 138(5), 1198-1207. doi: 10.1093/brain/awv052
Conference Contribution - Published proceedings: Abstract
Bergin, P., D'Souza, W., Beghi, E., Tripathi, M., Richardson, M., Sadleir, L., & Bianchi, E. (2015). Do neurologists around the world agree when diagnosing epilepsy? Results of a multinational epinet study. Journal of the Neurological Sciences, 357(Suppl. 1), (pp. e28). doi: 10.1016/j.jns.2015.08.154
Bergin, P. S., Beghi, E., D'Souza, W., Tripathi, M., Sadleir, L., Richardson, M., … EpiNet Study Group. (2015). How much variability is there is epilepsy diagnoses? The EpiNet validation study. Epilepsia, 56(Suppl. 1), (pp. 12-13). doi: 10.1111/epi.13241
Bergin, P., Beghi, E., D'Souza, W., Sadleir, L., Tripathi, M., Richardson, M., & Bianchi, E. (2015). The EpiNet Collaboration: Do neurologists around the world agree when diagnosing epilepsy? Results of a multinational study. Neurology, 84(14, Suppl.), 004. [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2015, November). SUDEP: How common is it, why does it happen and what can you do about it? Verbal presentation at the Paediatric Society of New Zealand 67th Annual Scientific Meeting Post-Conference Meeting, Wellington, New Zealand.
Sadleir, L. (2015, June). Epilepsies of infancy: Solving the puzzle. Verbal presentation at the 9th Annual Brain Health Research Centre Conference: Science for a Healthy Brain, Dunedin, New Zealand.
Sadleir, L. (2015, August). Epilepsy: Defining the genetic determinants. Invited presentation at the Inaugural Dunedin School of Medicine Symposium, Dunedin, New Zealand.
2014
Journal - Research Article
Carlson, C., Dugan, P., Kirsch, H. E., Friedman, D., and the EPGP Investigators, including Sadleir, L. (2014). Sex differences in seizure types and symptoms. Epilepsy & Behavior, 41, 103-108. doi: 10.1016/j.yebeh.2014.09.051
Dugan, P., Carlson, C., Bluvstein, J., Chong, D. J., Friedman, D., …, on behalf of the EPGP Investigators, including Sadleir, L. (2014). Auras in generalized epilepsy. Neurology, 83, 1444-1449. doi: 10.1212/WNL.0000000000000877
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium, including Sadleir, L. (2014). De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. American Journal of Human Genetics, 95(4), 360-370. doi: 10.1016/j.ajhg.2014.08.013
Keenan, N., Sadleir, L. G., & Wiltshire, E. (2014). Vascular function and risk factors in children with epilepsy: Associations with sodium valproate and carbamazepine. Epilepsy Research, 108(6), 1087-1094. doi: 10.1016/j.eplepsyres.2014.04.006
Carvill, G. L., Weckhuysen, S., McMahon, J. M., Hartmann, C., Møller, R. S., Hjalgrim, H., … Sadleir, L. G., … Mefford, H. C. (2014). GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome. Neurology, 82(14), 1245-1253. doi: 10.1212/wnl.0000000000000291
Journal - Research Other
Keenan, N., Sadleir, L., & Wiltshire, E. (2014). Response to “Asymmetric dimethylarginine and vascular risk in patients treated with antiepileptic drugs”. Epilepsy Research, 108(10), 1962. doi: 10.1016/j.eplepsyres.2014.09.026
Conference Contribution - Published proceedings: Abstract
Gecz, J., Tan, C., Ranieri, E., Pham, D., Shard, C., Hynes, K., … Sadleir, L. G., … Scheffer, I. E. (2014). The importance of neurosteroid hormones in the pathogenesis of Protocadherin 19 female limited epilepsy and intellectual disability (PCDH19-FE). Proceedings of the American Society of Human Genetics (ASHG) Annual Meeting. Retrieved from http://www.ashg.org/
Sadleir, L. (2014). New genes in focal epilepsy. Journal of Paediatrics & Child Health, 50(Suppl. 2), (pp. 8). doi: 10.1111/jpc.12552
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2014, November). Gene discovery in epilepsy: The building block of precision medicine. Verbal presentation at the Genetics Otago Annual Symposium & Workshop, Dunedin, New Zealand.
Other Research Output
International League Against Epilepsy (ILAE) Commission on Classification and Terminology and Syndromes Taskforce Members, including Sadleir, L. (2014). Epilepsydiagnosis.org. International League Against Epilepsy. Retrieved from https://www.epilepsydiagnosis.org/
2013
Chapter in Book - Research
Sadleir, L. G. (2013). Childhood absence epilepsy and myoclonic absence epilepsy. In M. Duchowny, H. Cross & A. Arzimanoglou (Eds.), Pediatric epilepsy. (pp. 152-161). New York, NY: McGraw-Hill Education.
Journal - Research Article
Widdess-Walsh, P., Dlugos, D., Fahlstrom, R., Joshi, S., Shellhaas, R., Boro, A., … and the EPGP Investigators, including Sadleir, L. (2013). Lennox-Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia, 54(11), 1898-1904. doi: 10.1111/epi.12395
Friedman, D., Fahlstrom, R., the EPGP Investigators, including Sadleir, L. (2013). Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP). Epilepsy Research, 107(3), 306-310. doi: 10.1016/j.eplepsyres.2013.09.007
Sadleir, L. G., Agher, D., Chabrol, E., Elkouby, L., Leguern, E., Paterson, S. J., Harty, R., … Baulac, S. (2013). Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. Epilepsy Research, 107(3), 311-317. doi: 10.1016/j.eplepsyres.2013.09.008
Shain, C., Ramgopal, S., Parulkar, I., Alongi, R., Knowlton, R., Poduri, A., and the EPGP Investigators, including Sadleir, L. (2013). Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia, 54(8), 1368-1375. doi: 10.1111/epi.12238
The EPGP Collaborative, including Sadleir, L. (2013). The Epilepsy Phenome/Genome Project. Clinical Trials, 10, 568-586. doi: 10.1177/1740774513484392
Winawer, M. R., Connors, R., and the EPGP Investigators, including Sadleir, L. (2013). Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia, 54(2), 288-295. doi: 10.1111/epi.12072
Nesbitt, G., McKenna, K., Mays, V., Carpenter, A., Miller, K., Williams, M., the EPGP Investigators, including Sadleir, L. (2013). The Epilepsy Phenome/Genome Project (EPGP) informatics platform. International Journal of Medical Informatics, 82(4), 248-259. doi: 10.1016/j.ijmedinf.2012.03.004
Carvill, G. L., Regan, B. M., Yendle, S. C., O'Roak, B. J., Lozovaya, N., Bruneau, N., … Sadleir, L. G., … Mefford, H. C. (2013). GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics, 45(9), 1073-1076. doi: 10.1038/ng.2727
Mulley, J. C., Hodgson, B., McMahon, J. M., Iona, X., Bellows, S., Mullen, S. A., … Sadleir, L., … Dibbens, L. M. (2013). Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia, 54(9), e122-e126. doi: 10.1111/epi.12323
Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., … Stanley, T., … Sadleir, L. G., … Mefford, H. C. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics, 45(7), 825-830. doi: 10.1038/ng.2646
Tsai, M.-H., Vears, D. F., Turner, S. J., Smith, R. L., Berkovic, S. F., Sadleir, L. G., & Scheffer, I. E. (2013). Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia, 54(2), 280-287. doi: 10.1111/epi.12065
Conference Contribution - Published proceedings: Abstract
Sadleir, L., Vears, D. F., Regan, B., Redshaw, N., Bleasel, A. F., & Scheffer, I. E. (2013). Clinical genetics of eyelid myoclonia with absences. Epilepsy Currents, 13(1 (Suppl.)). [Abstract]
Sadleir, L., Smith, K., Paterson, S., Redshaw, N., Ranta, A., Kalnins, R., … Scheffer, I. (2013). Myoclonic Occipital Photosensitive Epilepsy with Dystonia (MOPED): A novel familial autosomal dominant epilepsy syndrome. Proceedings of the American Epilepsy Society (AES) 68th Annual Meeting. 1.303. Retrieved from www.aesnet.org
Carvill, G. L., Heavin, S. B., Yendle, S. C., O'Roak, B. J., Cook, J., Khan, A., … Stanley, T., … Sadleir, L. G., … Mefford, H. C. (2013). Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes. Epilepsia, 54(Suppl. 3), (pp. 16). doi: 10.1111/epi.12228
Carvill, G. L., Regan, B. M., Yendle, S. C., O'Roak, B. J., Khan, A., Cook, J., Sadleir, L. G., … Mefford, H. C. (2013). Epilepsy-aphasia spectrum disorders are caused by mutations in GRIN2A. Epilepsia, 54(Suppl. 3), (pp. 294). doi: 10.1111/epi.12229
2012
Journal - Research Article
Sadleir, L. G., Vears, D., Regan, B., Redshaw, N., Bleasel, A., & Scheffer, I. E. (2012). Family studies of individuals with eyelid myoclonia with absences. Epilepsia, 53(12), 2141-2148. doi: 10.1111/j.1528-1167.2012.03692.x
Arsov, T., Mullen, S. A., Damiano, J. A., Lawrence, K. M., Huh, L. L., Nolan, M., … Sadleir, L. G., & Scheffer, I. E. (2012). Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia, 53(12), e204-e207. doi: 10.1111/epi.12007
Scheffer, I. E., Grinton, B. E., Heron, S. E., Kivity, S., Afawi, Z., Iona, X., … Sadleir, L. G., … Dibbens, L. M. (2012). PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology, 79(21), 2104-2108. doi: 10.1212/WNL.0b013e3182752c6c
Bergin, P., Sadleir, L., Legros, B., Mogal, Z., Tripathi, M., Dang, N., … for the EpiNet study group. (2012). An international pilot study of an internet-based platform to facilitate clinical research in epilepsy: The EpiNet project. Epilepsia, 53(10), 1829-1835. doi: 10.1111/j.1528-1167.2012.03636.x
Vears, D. F., Tsai, M.-H., Sadleir, L. G., Grinton, B. E., Lillywhite, L. M., Carney, P. W., … Scheffer, I. E. (2012). Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia, 53(2), 319-324. doi: 10.1111/j.1528-1167.2011.03368.x
Crompton, D. E., Sadleir, L. G., Bromhead, C. J., Bahlo, M., Bellows, S. T., Arsov, T., … Scheffer, I. E. (2012). Familial adult myoclonic epilepsy: Recognition of mild phenotypes and refinement of the 2q locus. Archives of Neurology, 69(4), 474-481. doi: 10.1001/archneurol.2011.584
Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., … Sadleir, L. G., … Dibbens, L. M. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160. doi: 10.1016/j.ajhg.2011.12.003
Conference Contribution - Published proceedings: Abstract
Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Pridmore, C., … Sadleir, L., … Dibbens, L. (2012). Mutations in PRRT2 cause benign familial infantile epilepsy and infantile convulsions and choreoathetosis syndrome. Twin Research & Human Genetics, 15(4), (pp. 572-573). [Abstract]
Bergin, P., Sadleir, L., Srivastava, K., Wanigasinghe, J., D'Souza, W., & Tripathi, M. (2012). An international collaboration to undertake clinical research in epilepsy: The EpiNet project. Developmental Medicine & Child Neurology, 54(Suppl. s4), (pp. 127). doi: 10.1111/j.1469-8749.2012.04282.x
2011
Journal - Research Article
Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., … Sadleir, L. G., … Scheffer, I. E. (2011). Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology, 70(6), 974-985. doi: 10.1002/ana.22645
Sadleir, L. G., Farrell, K., Smith, S., Connolly, M. B., & Scheffer, I. E. (2011). Electroclinical features of absence seizures in sleep. Epilepsy Research, 93, 216-220. doi: 10.1016/j.eplepsyres.2010.12.009
Conference Contribution - Published proceedings: Abstract
Gibbs, S., Sadleir, L., Cole, D. E. C., Hendy, G. N., & Wiltshire, E. (2011). Does the calcium sensing receptor have a role in neuronal function and idiopathic epilepsy? Proceedings of the 8th International Brain Research Organization (IBRO) World Congress. Retrieved from http://www.abstractstosubmit.com/ibro2011/abstracts/
Tsai, M.-H., Vears, D., Sadleir, L., Berkovic, S. F., Smith, R., & Scheffer, I. E. (2011). Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes (BECTS). Epilepsia, 52(Suppl. 6), (pp. 99). [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Bergin, P. S., Sadleir, L. G., Legros, B., Mogal, Z., Tripathi, M., ..., & Burneo, J. G. (2011, December). An international pilot study of an internet-based platform to run epilepsy trials: The EpiNet project. Verbal presentation at the 65th American Epilepsy Society Annual Meeting, Baltimore, Maryland.
Sadleir, L. (2011, July). Clinical genetics of eyelid myoclonia with absences. Verbal presentation at the Epilepsy Research Retreat, Lorne, Australia.
2010
Journal - Research Article
Sadleir, L. G., & Scheffer, I. E. (2010). Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. Archives of Neurology, 67(11), 1345-1349. doi: 10.1001/archneurol.2010.155
Bergin, P. S., Ip, T., Sheehan, R., Frith, R. W., Sadleir, L. G., McGrath, N., Ranta, A., & Walker, E. B. (2010). Using the Internet to recruit patients for epilepsy trials: Results of a New Zealand pilot study. Epilepsia, 51(5), 868-873. doi: 10.1111/j.1528-1167.2009.02393.x
Conference Contribution - Poster Presentation (not in published proceedings)
Keenan, N., Sadleir, L., & Wiltshire, E. (2010, September). Early vascular disease in children with epilepsy receiving anticonvulsants. Poster session presented at the Fourth Annual Division of Health Sciences Research Forum, Dunedin, New Zealand.
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2010, October). Epilepsies with absence seizures. Verbal presentation at the 8th Asian and Oceanian Epilepsy Congress, Melbourne, Australia.
2009
Journal - Research Article
Sadleir, L. G., Scheffer, I. E., Smith, S., Connolly, M. B., & Farrell, K. (2009). Automatisms in absence seizures in children with idiopathic generalized epilepsy. Archives of Neurology, 66(6), 729-734. doi: 10.1001/archneurol.2009.108
Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., Farrell, K., & Connolly, M. B. (2009). EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state. Epilepsia, 50(6), 1572-1578. doi: 10.1111/j.1528-1167.2008.02001.x
Conference Contribution - Published proceedings: Abstract
Bergin, P., Frith, R., Sadleir, L., McGrath, N., Ranta, A., Walker, E., … Ip, T. (2009). Using the internet to recruit patients for epilepsy drug trials. Epilepsia, 50(Suppl. 4), (pp. 158). doi: 10.1111/j.1528-1167.2009.02063.x
Bergin, P., Ip, T., Sheehan, R., Frith, R., Sadleir, L., McGrath, N., … Walker, E. (2009). Use of the internet to facilitate investigator-driven trials in epilepsy. Epilepsia, 50(Suppl. 10), (pp. 31). doi: 10.1111/j.1528-1167.2009.02320.x
Scheffer, I. E., Crompton, D., Sadleir, L. G., Bahlo, M., Bromhead, C., Bellows, S. T., … Harty, R., … Berkovic, S. F. (2009). Clinical and neurophysiological characterization of a new large family with familial adult myoclonic epilepsy (FAME). Epilepsia. 50(Supp. 11), (pp. 152). doi: 10.1111/j.1528-1167.2009.02377.x
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L., Nolan, M., Bergin, P., & Spooner, C. (2009, November). Epilepsy in children: Diagnostic and therapeutic workshop. Verbal presentation at the Paediatric Society of New Zealand 61st Annual Scientific Meeting: Starving in the Age of Recession: The Ecology of Child Health, Hamilton, New Zealand.
2008
Journal - Research Article
Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., Carlin, J., Connolly, M. B., & Farrell, K. (2008). Factors influencing clinical features of absence seizures. Epilepsia, 49(12), 2100-2107. doi: 10.1111/j.1528-1167.2008.01708.x
Wiltshire, E., Davidzon, G., DiMauro, S., Akman, H. O., Sadleir, L., Haas, L., Zuccollo, J., McEwen, A., & Thorburn, D. R. (2008). Juvenile Alpers disease. Archives of Neurology, 65(1), 121-124. doi: 10.1001/archneurol.2007.14
Journal - Research Other
Bergin, P. S., Sadleir, L. G., & Walker, E. B. (2008). Bringing epilepsy out of the shadows in New Zealand [Viewpoint]. New Zealand Medical Journal, 121(1268). Retrieved from http://journal.nzma.org.nz/journal/121-1268/2894/content.pdf
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., Connolly, M., & Farrell, K. (2008). Automatisms in absence seizures in children with idiopathic generalized epilepsy. Epilepsia. 49(Suppl. 7), (pp. 234). [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2008, March). First seizures in children. Verbal presentation at the Keppra Paediatric Autumn Epilepsy Summit, Melbourne, Australia.
Sadleir, L. (2008, July-August). Automatism in absence seizures. Verbal presentation at the Epilepsy Research Retreat: Genetics, Imaging & Function in Epilepsies, Marysville, Australia.
Sadleir, L. (2008, December). Absence seizures in idiopathic generalized epilepsy: Are they syndrome specific? [Inaugural John Crichton Lecture on Pediatric Neuroscience]. Verbal presentation at the Neuroscience Grand Rounds Conference, Vancouver, Canada.
Sadleir, L. (2008, May). Are absence seizures syndrome specific? Verbal presentation at the 7th Asian and Oceanian Epilepsy Congress, Xiamen, China.
2007
Journal - Research Article
Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., … Stanley, T., … The Early Infantile Epileptic Encephalopathy Referral Consortium, … Scheffer, I. E. (2007). The spectrum of SCNIA-related infantile epileptic encephalopathies. Brain, 130, 843-852.
Sadleir, L. G., & Scheffer, I. E. (2007). Febrile seizures. BMJ, 334, 307-311. doi: 10.1136/bmj.39087.691817.AE
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., & Scheffer, I. E. (2007). Early versus late sleep-deprived EEG's in children with new onset seizures. Epilepsia. 48(S6), (pp. 207-208). [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2007, August). EEG in first seizures in children. Verbal presentation at the Epilepsy Research Retreat, Marysville, Victoria, Australia.
Sadleir, L. (2007, November). Epilepsy diagnosis: Case discussions. Verbal presentation at the Paediatric Society of New Zealand 59th Annual Scientific Meeting, Christchurch, New Zealand.
Sadleir, L. (2007, May). Early and sleep-deprived EEGs in children with newly-presenting seizures. Verbal presentation at the Australia and New Zealand Child Neurology Society Meeting, Balgownie Estate, Victoria, Australia.
2006
Journal - Research Article
Sadleir, L. G., Farrell, K., Smith, S., Connolly, M. B., & Scheffer, I. E. (2006). Electroclinical features of absence seizures in childhood absence epilepsy. Neurology, 67, 413-418.
Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., … Berkovic, S. F. (2006). Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults. Neurology, 67, 2224-2226.
Conference Contribution - Verbal presentation and other Conference outputs
Sadleir, L. (2006, August). EEG in human absence epilepsy. Verbal presentation at the Epilepsy Research Retreat, Kalorama, Australia.
Sadleir, L. (2006, November). Comparison of early and sleep deprived EEGs in children with newly presenting seizures. Verbal presentation at the NANZ Annual Scientific Meeting: New Zealand Chapter of the International League Against Epilepsy Inaugural Annual Meeting, Wellington, New Zealand.
2005
Conference Contribution - Published proceedings: Abstract
Jansen, F. E., Sadleir, L. G., Harkin, L., Vadlamudi, L., McMahon, J. M., Mulley, J. C., … Berkovic, S. B. (2005). Adult phenotype of severe myoclonic epilepsy in infancy. Proceedings of the 26th International Epilepsy Conference. (pp. 147). [Abstract]
2004
Journal - Research Article
Sadleir, L. G., Connolly, M. B., Applegarth, D., Hendson, G., Clarke, L., Rakshi, C., & Farrell, K. (2004). Spasms in children with definite and probable mitochondrial disease. European Journal of Neurology, 11, 103-110.
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., Farrell, K., Connolly, M. B., Smith, S., & Scheffer, I. (2004). Very few children with typical absence seizures meet the recently proposed diagnostic criteria for childhood absence epilepsy (CAE). Epilepsia, 45(Suppl. 7), (pp. 276). [Abstract]
Farrell, K., Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., & Connolly, M. B. (2004). The effect of the epilepsy syndrome on the electroclinical features of typical absence seizures. Epilepsia, 45(Suppl. 7), (pp. 100). [Abstract]
Wiltshire, E. J., Haas, L., Sadleir, L., Zuccollo, J., McEwen, A., & Thorburn, D. R. (2004). Adult Alpers disease with liver complex I and IV deficiency. Journal of Inherited Metabolic Disease, 27(Suppl. 1), (pp. 119). [Abstract]
2003
Journal - Research Article
Grimwood, K., Huang, Q. S., Sadleir, L. G., Nix, W. A., Kilpatrick, D. R., Oberste, M. S., & Pallansch, M. A. (2003). Acute flaccid paralysis from echovirus type 33 infection. Journal of Clinical Microbiology, 41(5), 2230-2232.
Wallace, R. H., Hodgson, B. L., Grinton, B. E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., Sadleir, L. G., … Scheffer, I. (2003). Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61, 765-769.
Journal - Professional & Other Non-Research Articles
Sadleir, L. G. (2003). Management of epilepsy in children. New Ethicals Journal, 6(5), 57-63.
2001
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., Connolly, M., Smith, S., & Farrell, K. (2001). Eye opening in untreated typical absence seizures. Epilepsia. 42(supplement 7), (pp. 51-52). [Abstract]
1999
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., Connolly, M., Smith, S., & Farrell, K. (1999). Clinical and interictal EEG features in children with untreated typical absence seizures. Annual meeting of the American Epilepsy Society. 40(Suppl. 7), (pp. 119). Epilepsia. [Abstract]
Sadleir, L. G., Connolly, M., Henderson, G. D., Clarke, L., Rakshi, C., Applegarth, D., & Farrell, K. (1999). Epileptic spasms are a common presenting seizure type in children with mitochondrial disorders. Annual Meeting of the American Epilepsy Society. 40(Suppl. 7), (pp. 125). Epilepsia. [Abstract]
1998
Journal - Research Article
Sadleir, L. G., & Connolly, M. B. (1998). Acquired brachial-plexus neuropathy in the neonate: A rare presentation of late-onset groupB streptococcal osteomyelitis. Developmental Medicine & Child Neurology, 40(Suppl. 79), 6.
Conference Contribution - Published proceedings: Abstract
Forsyth, R., Devlin, A., Sadleir, L., & Innes, S. (1998). Brain membrain pertubation due to incorporation of medium-chain fatty acids is not part of the anticonvulsant mechanism of the ketogenic diet. Developmental Medicine and Child Neurology. 40(Suppl. 79), (pp. 6). [Abstract]
Sadleir, L. (1998). Clinical and electrophysiological features of children with mitochondrial disorders and epilepsy. Canadian Journal of Neurological Sciences. 25(2, Suppl. 1), (pp. S12). [Abstract]
1997
Conference Contribution - Published proceedings: Abstract
Sadleir, L. G., Farrell, K., & Hill, A. (1997). Recurrent absence status associated with a cerebellar vermis tumor in a child. Canadian Journal of Neurological Sciences. 24(Suppl. 1), (pp. S37). [Abstract]
Sadleir, L. G., de Levie, M., & Connolly, M. (1997). Early developmental delay due to cobalamin (vitamin B12) deficiency in an exclusively breast fed infant of a vegan mother. Canadian Journal of Neurological Sciences. 24(Suppl. 1), (pp. S39). [Abstract]