Condition: Epilepsy, Childhood Absence, Susceptibility To, 4


rs587777308 in GABRA1 gene and Epilepsy, Childhood Absence, Susceptibility To, 4 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 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.