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Professor Lynette Sadleir

Lynette Sadlier thumbnailProfessor Lynette Sadleir is a physician scientist with expertise in epilepsy phenotyping.

She is the director of the Epilepsy Research Group (ERG). The ERG is committed to improving the quality of life for children with epilepsy and their families. Their research aims to identify new and refine emerging genetic epilepsy syndromes and to discover the genetic abnormalities that cause them. The identification of new epilepsy syndromes and discovery of novel epilepsy genes leads to a deeper understanding of epilepsy with implications for diagnosis, prognosis and development of new treatments. The ERG has international collaborative ties with epilepsy genetic research groups in Australia and the USA.

Find out more about Professor Sadleir’s research

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Publications

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. Advance online publication. 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. Advance online publication. 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. Advance online publication. doi: 10.1111/epi.16854

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. Advance online publication. 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

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: Advances in experimental medicine and biology. New York, NY: Springer. doi: 10.1007/5584_2020_574

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.

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.

Chapter in Book - Research

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. Advance online publication. 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. Advance online publication. 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. Advance online publication. doi: 10.1111/epi.16854

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

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. Advance online publication. doi: 10.1111/epi.16922

Journal - Research Article

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. Advance online publication. doi: 10.1111/epi.16679

Journal - Research Article

Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Siddharth, B., … Day, R., … Sadleir, L. G., … Rauch, A. (2020). 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. Advance online publication. doi: 10.1038/s41436-020-01011-x

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

Jeffrey, J. S., Leathem, J., King, C., Mefford, H. C., Ross, K., & Sadleir, L. G. (2020). Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families. Epilepsia Open. Advance online publication. doi: 10.1002/epi4.12458

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

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., … Sadleir, L. G., … Scheffer, I. E. (2020). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns. Genetics in Medicine. Advance online publication. doi: 10.1038/s41436-020-00988-9

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

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

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