Condition: Idiopathic generalized epilepsy
rs587777308
in
GABRA1
gene and
Idiopathic generalized epilepsy
PMID 26918889
2016 De novo GABRA1 mutations in Ohtahara and West syndromes.
PMID 24623842
2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
PMID 27521439
2016 Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
PMID 27353043
2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.