Professor Lynette Sadleir, Department of Paediatrics and Child Health
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
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
Conference Contribution - Published proceedings: Abstract
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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 Article
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
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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/
Chapter in Book - Research
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Chapter in Book - Research
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 Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article
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 Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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 Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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.
Chapter in Book - Research
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 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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article
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
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
Journal - Research Article
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 Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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.
Chapter in Book - Research
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
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
Journal - Research Article
The EPGP Collaborative, including Sadleir, L. (2013). The Epilepsy Phenome/Genome Project. Clinical Trials, 10, 568-586. doi: 10.1177/1740774513484392
Journal - Research Article
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
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
Journal - Research Article
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
Journal - Research Article