Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Life Sciences, Genetics, Molecular Genetics +17

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

Life Sciences, Genetics, Neuroscience +12

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics · 2001 · 766 citations

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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Jae Seok Lim, Woo-Il Kim, Hoon‐Chul Kang et al. · Nature Medicine · 2015 · 524 citations · Full text

Medicine, Neurology, Neuroscience +14

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Carolien G. F. de Kovel, Holger Trucks, Heather C. Mefford et al. · Brain · 2009 · 448 citations · Full text

Medicine, Genetics, Molecular Genetics +17