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Otago Medical School staff profiles

Professor Lynette Sadleir

PositionProfessor
DepartmentDepartment of Paediatrics and Child Health (UOW)
QualificationsMB ChB MD DipPaed FRACP
Research summaryEpilepsy

Research

Lynette is an epileptologist and physician scientist and the director of the Epilepsy Research Group at the University of Otago, Wellington. Epilepsy is the most common serious brain disorder worldwide. Most people with epilepsy live normal lives but many of them have severe forms of this disorder associated with intellectual disability, autism, social difficulties, mental illness and early death. Lynette’s research group is committed to improving the quality of life for individuals with epilepsy and their families. It aims to identify and define the different types of epilepsy and find the genes that cause them. Over 1,600 New Zealanders are participating in her epilepsy genetics project. Discovered epilepsy genes are quickly added to clinical gene panels used internationally for the genetic diagnosis of epilepsy. Identifying new epilepsy genes is the necessary first step for the development of targeted new treatments that will alter the course of these disorders.

Publications

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

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

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

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

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

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

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

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

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

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

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

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

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., 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

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

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

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

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

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

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

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

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

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

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

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

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

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

The EPGP Collaborative, including Sadleir, L. (2013). The Epilepsy Phenome/Genome Project. Clinical Trials, 10, 568-586. doi: 10.1177/1740774513484392

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

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

Scheffer, I. E., Grinton, B. E., Heron, S. E., Kivity, S., Afawi, Z., Iona, X., … Sadleir, L. G., … Dibbens, L. M. (2012). PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology, 79(21), 2104-2108. doi: 10.1212/WNL.0b013e3182752c6c

Crompton, D. E., Sadleir, L. G., Bromhead, C. J., Bahlo, M., Bellows, S. T., Arsov, T., … Scheffer, I. E. (2012). Familial adult myoclonic epilepsy: Recognition of mild phenotypes and refinement of the 2q locus. Archives of Neurology, 69(4), 474-481. doi: 10.1001/archneurol.2011.584

Bergin, P., Sadleir, L., Legros, B., Mogal, Z., Tripathi, M., Dang, N., … for the EpiNet study group. (2012). An international pilot study of an internet-based platform to facilitate clinical research in epilepsy: The EpiNet project. Epilepsia, 53(10), 1829-1835. doi: 10.1111/j.1528-1167.2012.03636.x

Sadleir, L. G., Vears, D., Regan, B., Redshaw, N., Bleasel, A., & Scheffer, I. E. (2012). Family studies of individuals with eyelid myoclonia with absences. Epilepsia, 53(12), 2141-2148. doi: 10.1111/j.1528-1167.2012.03692.x

Vears, D. F., Tsai, M.-H., Sadleir, L. G., Grinton, B. E., Lillywhite, L. M., Carney, P. W., … Scheffer, I. E. (2012). Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia, 53(2), 319-324. doi: 10.1111/j.1528-1167.2011.03368.x

Arsov, T., Mullen, S. A., Damiano, J. A., Lawrence, K. M., Huh, L. L., Nolan, M., … Sadleir, L. G., & Scheffer, I. E. (2012). Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia, 53(12), e204-e207. doi: 10.1111/epi.12007

Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., … Sadleir, L. G., … Dibbens, L. M. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160. doi: 10.1016/j.ajhg.2011.12.003

Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., … Sadleir, L. G., … Scheffer, I. E. (2011). Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology, 70(6), 974-985. doi: 10.1002/ana.22645

Sadleir, L. G., Farrell, K., Smith, S., Connolly, M. B., & Scheffer, I. E. (2011). Electroclinical features of absence seizures in sleep. Epilepsy Research, 93, 216-220. doi: 10.1016/j.eplepsyres.2010.12.009

Sadleir, L. G., & Scheffer, I. E. (2010). Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. Archives of Neurology, 67(11), 1345-1349. doi: 10.1001/archneurol.2010.155

Bergin, P. S., Ip, T., Sheehan, R., Frith, R. W., Sadleir, L. G., McGrath, N., Ranta, A., & Walker, E. B. (2010). Using the Internet to recruit patients for epilepsy trials: Results of a New Zealand pilot study. Epilepsia, 51(5), 868-873. doi: 10.1111/j.1528-1167.2009.02393.x

Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., Farrell, K., & Connolly, M. B. (2009). EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state. Epilepsia, 50(6), 1572-1578. doi: 10.1111/j.1528-1167.2008.02001.x

Sadleir, L. G., Scheffer, I. E., Smith, S., Connolly, M. B., & Farrell, K. (2009). Automatisms in absence seizures in children with idiopathic generalized epilepsy. Archives of Neurology, 66(6), 729-734. doi: 10.1001/archneurol.2009.108

Wiltshire, E., Davidzon, G., DiMauro, S., Akman, H. O., Sadleir, L., Haas, L., Zuccollo, J., McEwen, A., & Thorburn, D. R. (2008). Juvenile Alpers disease. Archives of Neurology, 65(1), 121-124. doi: 10.1001/archneurol.2007.14

Sadleir, L. G., Scheffer, I. E., Smith, S., Carstensen, B., Carlin, J., Connolly, M. B., & Farrell, K. (2008). Factors influencing clinical features of absence seizures. Epilepsia, 49(12), 2100-2107. doi: 10.1111/j.1528-1167.2008.01708.x

Sadleir, L. G., & Scheffer, I. E. (2007). Febrile seizures. BMJ, 334, 307-311. doi: 10.1136/bmj.39087.691817.AE

Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., … Stanley, T., … The Early Infantile Epileptic Encephalopathy Referral Consortium, … Scheffer, I. E. (2007). The spectrum of SCNIA-related infantile epileptic encephalopathies. Brain, 130, 843-852.

Sadleir, L. G., Farrell, K., Smith, S., Connolly, M. B., & Scheffer, I. E. (2006). Electroclinical features of absence seizures in childhood absence epilepsy. Neurology, 67, 413-418.

Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., … Berkovic, S. F. (2006). Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults. Neurology, 67, 2224-2226.

Sadleir, L. G., Connolly, M. B., Applegarth, D., Hendson, G., Clarke, L., Rakshi, C., & Farrell, K. (2004). Spasms in children with definite and probable mitochondrial disease. European Journal of Neurology, 11, 103-110.

Grimwood, K., Huang, Q. S., Sadleir, L. G., Nix, W. A., Kilpatrick, D. R., Oberste, M. S., & Pallansch, M. A. (2003). Acute flaccid paralysis from echovirus type 33 infection. Journal of Clinical Microbiology, 41(5), 2230-2232.

Wallace, R. H., Hodgson, B. L., Grinton, B. E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., Sadleir, L. G., … Scheffer, I. (2003). Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61, 765-769.

Sadleir, L. G., & Connolly, M. B. (1998). Acquired brachial-plexus neuropathy in the neonate: A rare presentation of late-onset groupB streptococcal osteomyelitis. Developmental Medicine & Child Neurology, 40(Suppl. 79), 6.

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Journal - Research Other

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

Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., … Sadleir, L. G., … Mefford, H. C. (2018). Parental mosaicism in "de novo" epileptic encephalopathies. New England Journal of Medicine, 378(17), 1646-1648. doi: 10.1056/NEJMc1714579

Ali, S., Scheffer, I. E., & Sadleir, L. G. (2018). Efficacy of cannabinoids in paediatric epilepsy [Invited]. Developmental Medicine & Child Neurology. Advance online publication. doi: 10.1111/dmcn.14087

Cooper, M. S., McIntosh, A., Crompton, D. E., McMahon, J. M., Schneider, A., Farrell, K., … Sadleir, L., … Scheffer, I. E. (2016). Mortality in Dravet syndrome [Short communication]. Epilepsy Research, 128, 43-47. doi: 10.1016/j.eplepsyres.2016.10.006

Keenan, N., Sadleir, L., & Wiltshire, E. (2014). Response to “Asymmetric dimethylarginine and vascular risk in patients treated with antiepileptic drugs”. Epilepsy Research, 108(10), 1962. doi: 10.1016/j.eplepsyres.2014.09.026

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