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Article

De novo GABRA1 mutations in Ohtahara and West syndromes

25 Feb 2016

Abstract excerpt

OBJECTIVE: GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy. In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome. Those reports suggest that GABRA1 mutations are associated with infantile epilepsy including...

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PMID: 26918889
DOI: 10.1111/epi.13344

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