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

Poke, G., Stanley, J., Scheffer, I. E., & Sadleir, L. G. (2022). Epidemiology of developmental and epileptic encephalopathy and of intellectual disability and epilepsy in children. Neurology. Advance online publication. doi: 10.1212/wnl.0000000000206758

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. Advance online publication. 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. Advance online publication. 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

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

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

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

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

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

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

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

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

de Valles-Ibáñez, G., Hildebrand, M. S., Bahlo, M., King, C., Coleman, M., Green, T. E., … Sadleir, L. G. (2021). Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. Epilepsia Open. Advance online publication. doi: 10.1002/epi4.12553

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

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

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