Open AccessMolecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome
Author(s) -
JingQiong Kang,
Robert L. Macdonald
Publication year - 2016
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2016.0449
Subject(s) - dravet syndrome , gabaa receptor , biology , childhood absence epilepsy , epilepsy , epilepsy syndromes , endoplasmic reticulum , genetics , receptor , microbiology and biotechnology , neuroscience
In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene.
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