Dravet syndrome is a distressing infantile-onset epilepsy, which is sometimes accompanied by severe intellectual disabilities, autistic traits, hyperactive behavior, and ataxia. Discovery of SCN1A mutation in 2001 as a primary cause of this syndrome has accelerated the knowledge of the pathophysiological processes behind Dravet syndrome. SCN1A is responsible for encoding the α-subunit of the voltage-gated sodium channel NaV1.1. Recent studies, using genetically modified mouse models, have indicated that haploinsufficiency of NaV1.1 in GABAergic inhibitory interneurons in the forebrain may be involved in the fever sensitivity of seizures, seizure susceptibility, autistic traits, and premature death characteristics of Dravet syndrome. In recent years, human cellular models of Dravet syndrome have been recognized by the use of induced pluripotent stem cells (iPSCs) derived from patients. Functional susceptibilities in GABAergic neurons have been discovered by studying these human disease models.
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