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Human Molecular Genetics|May 9, 2015
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxiaJohn A Damiano, Zaid Afawi, Melanie Bahlo, et al.Annals of Neurology|October 28, 2015
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyMichael G Ricos, Bree L Hodgson, Tommaso Pippucci, et al.Molecular Psychiatry|June 13, 2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, et al.Epilepsia|October 24, 2025
Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC)Dennis J Dlugos, Ingrid E Scheffer, Jacqueline A French, et al.Epilepsia|November 6, 2024
Eating habits and behaviors in children with Dravet syndrome: A case-control studyAlexandra Laliberté, Lyna Siafa, Arij Soufi, et al.Epilepsia|February 14, 2007
Hippocampal sclerosis: MR prediction of seizure intractabilityRegula S Briellmann, R Mark Wellard, Richard A J Masterton, et al.European Journal of Human Genetics : EJHG|January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndromeTimothy E Green, Mareike Schimmel, Susanna Schubert, et al.Genome Research|September 3, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretationJoshua Traynelis, Michael Silk, Quanli Wang, et al.Annals of Neurology|May 4, 2019
Epilepsy in families: Age at onset is a familial trait, independent of syndromeColin A Ellis, Leonid Churilov, Michael P Epstein, et al.Epigenomics|June 6, 2019
Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approachNamitha Mohandas, Yuk Jing Loke, Stephanie Hopkins, et al.Pageof 74