Accessibility Skip to Global Navigation Skip to Local Navigation Skip to Content Skip to Search Skip to Site Map Menu

Publications 

Featured Publications


Sands, T.T., Miceli, F., Lesca, G., Beck, A.E., Sadleir, L.G., … , Scheffer, I.E., Mefford, H.C., … , Cilio, M.R. (total authors: 35) (2019). Autism and developmental disability caused by KCNQ3 gain-of-function variants. Annals of Neurology. 86(2):181-192. doi: 10.1002/ana.25522

This collaborative study expands the phenotype associated with pathogenic variants in KCNQ3. KCNQ3 is a gene that encodes a voltage-gated potassium channel, important in brain cell activity. Previous studies have shown that loss of function KCNQ3 pathogenic variants cause benign familial neonatal epilepsy. This report describes the neurodevelopmental phenotype of eleven individuals with gain of function KCNQ3 variants. All patients had developmental delay by two years of age. As the children got older they had autistic features with 45% eventually being diagnosed with autism spectrum disorder. The majority of cases remained non-verbal and had intellectual disability. Seizures were seen in only 2 patients however, most children had EEGs with epileptiform discharges that were increased during sleep. It is not clear why KCNQ3 loss of function results in a benign neonatal epilepsy while gain of function causes a significant neurodevelopmental phenotype.

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

Girls with protocadherin 19 gene (PCDH19) Girls Clustering Epilepsy (GCE) present with recurrent clusters of seizures triggered by fever in infancy or early childhood. Intellect can range from normal to severe intellectual disability (ID). PCDH19-GCE occurs in heterozygous females, whereas males are usually unaffected transmitting carriers. Rare males with mosaic pathogenic variants are affected. Vlaskamp, et al identified psychotic disorders as a later-onset feature of PCDH19-GCE in eight females with median onset at 21 years of age (range 11-28 years). It was found that 21% of females with PCDH19-GCE who were ages 11 or older, developed psychotic disorders, including schizophrenia in 15%, which is far higher than general population estimates of schizophrenia (1.4%). Monitoring, recognition, and appropriate treatment of later-onset schizophrenia in females with PCDH19-GCE should become part of route care in this population.

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

Despite considerable community interest in cannabis products for paediatric epilepsy, little evidence beyond anecdotal reports have been available to answer if cannabis can be used as a treatment strategy, until the last year. Our article reviews the latest evidence-based literature to answer this question. We found that of the hundreds of compounds in the marijuana plant, cannabidiol has the most evidence for antiepileptic effect. The antiepileptic effect of cannabidiol was similar to other antiepileptic medications available, and has similar side effects such as tiredness, nausea, diarrhea and decreased appetite. We therefore conclude that whilst current trials have shown cannabidiol has an antiepileptic effect, this effect is not a miracle cure. Future investigations are needed to determine which epilepsy syndromes are best treated with cannabidiol and if other modes of cannabidiol administration can reduce the side effects. The role of cannabidiol in future clinical practice remains to be seen.

Myers, C.T., Hollingsworth, G., Muir, A.M., Schneider, A.L., ... , King C., ... , Berkovic, S.F., Carvill, G.L,. Sadlier, L.G., Scheffer, I.E., Mefford, H.C. (2018). Parental mosaicism in “de novo” epileptic encephalopathies. New England Journal of Medicine, 378(17), 1646-1648. doi:10.1056/NEJMc1714579

Children with a genetic developmental and epileptic encephalopathies typically carry a “de novo” genetic change. This means that the genetic change resulting in their epilepsy occurred in them for the first time and is not present in either of their parents. However, using highly specific genetic sequencing and detection methods, we found that approximately 8% of the time, one of the unaffected parents actually carries the genetic change but at a lower frequency. This is referred to as mosaicism, which occurs when a genetic change is present in only a small proportion of cells in the body, as opposed to every cell. This is an extremely important finding for reproductive counselling in families who have had a child with severe epilepsy, where a parent is found to be mosaic. The risk of having another affected child (recurrence risk) drastically changes from 1% to 50%, indicating the family now has a 50% chance of having a second affected child. These findings will be significant for other severe genetic human diseases and will have a significant implication for reproductive and genetic counselling.

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 Geneticsdoi: 10.1016/j.ajhg.2018.09.006

CACNA genes encode subunits of voltage-gated calcium channels and have been implicated in a variety of neurological disorders. Thirty individuals with CACNA1E variants are reported in this article. Twenty-six out of 30 individuals developed epilepsy, at a median age of four months old. A variety of seizure types were seen, but epileptic spasms was the most common seizure type. Additionally, nearly all affected individuals had severe or profound developmental impairment. A subset of those with seizures were particularly responsive to the anti-epileptic medication topiramate. Compared to individuals with other developmental and epileptic encephalopathies (DEEs), those with CACNA1E-DEE often had movement disorders (particularly dystonia), congenital joint contractures, and an enlarged head circumference (macrocephaly). Nearly a quarter of the affected people had died by the time the study was published, often in childhood. Cellular function was studied and several variants were shown to cause increased activity of the calcium channels (gain of function), which provides a promising target for the development of precision medicines.

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

FBXO11 is a gene that encodes a member of the F-Box protein family and is essential in controlling critical biological processes by regulating protein turnover. Several other genes from this family have been related with neurodevelopmental disorders, but FBXO11 has not been previously associated with disease. Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo (occurring for the first time in a family) variants in FBXO11. Structural modeling of the variants suggests destabilization of the protein. Abnormalities in this gene cause a neurodevelopmental disorder with a variable degree of intellectual disability and various other features, including seizures (found in five individuals).

Kolc, K. L., Sadleir, L. G., Scheffer, I. E., Ivancevic, A., Roberts, R., Pham, D. H., Gecz, J. (2018). A systemic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Molecular Psychiatry, 24(2), 241-251. doi:10.1038/s41380-018-0066-9

Protocadherin 19 gene (PCDH19) Girls Clustering Epilepsy (GCE) is an infantile onset disorder characterised by clusters of seizures, onset often precipitated by fever, with a markedly varied neuropsychiatric profile, including intellectual disability (ID), and aggressive, autistic or obsessive features. PCDH19-GCE is associated with a reduction of seizures during adolescence, but neuropsychiatric dysfunction remains. Males who are cellular mosaics for the PCDH19 gene share a similar clinical profile as affected females. Data was extracted from 38 peer-reviewed original articles including 271 individual cases. Seizure onset ≤12 months was significantly associated with more severe ID, compared with onset >12 months. Knowledge of seizure onset will aid in prognostic counseling for affected individuals. PCDH19 variations were associated with psychiatric comorbidities in approximately 60% of females and 80% of affected mosaic males. Hyperactive, autistic, and obsessive-compulsive features were most frequently reported. As neuropsychiatric disorders can be responsive to early intervention, a better understanding of these comorbidities can lead to better developmental outcomes for PCDH19-GCE affected individuals.

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. doi:10.1111/epi.14438

Sudden unexpected death in epilepsy (SUDEP) is a tragic event that remains poorly understood. This study investigates whether abnormalities in heart rate variability (HRV) are linked to SUDEP in individuals due to variations in sodium channel genes (SCN). HRV was retrospectively evaluated using electroencephalographic (EEG) studies from 80 individuals with drug-resistant epilepsy, including 40 individuals with known variations in SCN genes (SCN group) and 40 control individuals without known SCN variations (control group). From the SCN group, ten individuals had died of SUDEP (SUDEP group). HRV was compared between SUDEP and non-SUDEP groups, which showed the SUDEP group had the most severe autonomic dysregulation, showing lower awake HRV and either extremely high or low ratios of sleep-to-awake HRV. These findings suggest that autonomic disfunction is associated with SUDEP risk in individuals with epilepsy due to SCN variations and suggests HRV as a potential biomarker of SUDEP risk.

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

PPP3CA encodes one of several protein components that form calcineurin, a protein-complex, that is involved in many biological processes. In the brain, this protein complex acts to control cell-to-cell communication by “mopping up” excess electrical signals in our brain cells. Six children were identified from a cohort of over 4,500 individuals with neurodevelopmental disorders to have genetic variants in the gene PPP3CA. These children had variable clinical features. All the affected children had a severe to profound intellectual disability, while five of the six children had epilepsy and three of these children presented with developmental and epileptic encephalopathy. This publication is the first report to implicate PPP3CA in early-onset refractory epilepsy and further supports the emerging role of proteins that regulate cellular communication in epilepsy.

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

The GRIN2 genes are involved in brain neurotransmission. In this article, individuals with GRIN2B variants are described. All had some degree of developmental delay or intellectual disability, ranging from mild to severe. Almost half (52%) of these individuals had epilepsy. Out of those with epilepsy, 60% had generalised seizures, 47% had focal seizures and/or 37% had epileptic spasms. Follow up data showed that half of those with epilepsy eventually became seizure free. A small number of people (<15%) had a movement disorder, developmental regression or a brain malformation. The type of genetic variant correlated with the degree of intellectual disability, but not with seizure frequency. Four people with gain-of-function variants were treated with the anti-epileptic medication memantine, which did not affect seizure frequency. However, different types of variants were shown to affect neurotransmission in different ways, which suggests that personalized treatments may be possible in the future.

Epi4K consortium, Epilepsy Phenome/Genome Project. (2017). Ultra-rare genetic variation in common epilepsies: a case-control study. The Lancet, 16(2), 135-143. doi: 10.1016/S1474-4422(16)30359-3

Despite progress in understanding the genetics of rare epilepsies, gene discovery for the more common epilepsies has been more of a challenge. The Epi4K consortium aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. This case-control study uses exome sequence data from unrelated individuals from either familial genetic generalised epilepsy or non-acquired focal epilepsy, two common epilepsy syndromes. The familial genetic generalised epilepsy cohort contained 640 individuals and the non-acquired focal epilepsy was further divided into familial (525 individuals) or sporadic (662 individuals) non-acquired focal epilepsy. These were compared to 3877 controls. Excess ultra-rare variation in known epilepsy genes was identified, which establishes a clear connection between the genetics of common and rare epilepsies. These findings suggest the possibility of shared precision treatments in the future.

^ Top of page

Publications

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

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

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

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.

^ Top of page

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. 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

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., 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

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

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

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

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., 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

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

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

More publications...