Associate Professor Lynette Sadleir, Department of Paediatrics and Child Health, Our people, University of Otago, Wellington, University of Otago, New Zealand

photo-of-Lynette-Sadleir

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'.

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Publications

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

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

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

Chapter in Book - Research
Journal - Research Article

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

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

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

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., 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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, 103, 666-678. doi: 10.1016/j.ajhg.2018.09.006

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

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

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

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

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

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

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

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

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

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