Condition: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
rs121434579
in
GABRA1
gene and
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
PMID 11992121
2002 Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
PMID 27521439
2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
PMID 24623842
2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
PMID 26918889
2016 De novo GABRA1 mutations in Ohtahara and West syndromes.
PMID 21714819
2011 Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
PMID 27353043
2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.