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Associate Professor Lynette Sadleir

Lynette Sadlier thumbnailAssociate Professor 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.

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Publications

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

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

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

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. Advance online publication. doi: 10.1111/epi.16305

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. Advance online publication. doi: 10.1016/j.ajhg.2019.05.020

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.

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.

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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

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. Advance online publication. doi: 10.1016/j.ajhg.2019.05.020

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. Advance online publication. doi: 10.1111/epi.16305

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

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

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. Advance online publication.

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

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

Bar, C., Barcia, G., Jennesson, M., Le Guyader, G., Schneider, A., Mignot, C., … Sadleir, L. G., … Nabbout, R. (2019). Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Human Mutation. Advance online publication. doi: 10.1002/humu.23915

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

Ellis, C. A., Berkovic, S. F., Epstein, M. P., Ottman, R., for the Epi4K Consortium, including Sadleir, L. G. (2019). The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence. Annals of Neurology. Advance online publication. doi: 10.1002/ana.25625

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

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

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

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. Advance online publication. doi: 10.1111/epi.14438

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

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. Advance online publication. doi: 10.1016/j.ajhg.2018.09.006

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

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

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

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

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

Bergin, P. S., Beghi, E., Sadleir, L. G., Tripathi, M., Richardson, M. P., Bianchi, E., … on behalf of the EpiNet Study Group. (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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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