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A human Dravet syndrome model from patient induced pluripotent stem cells

2 May 2013

Abstract excerpt

BACKGROUND: Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the α-subunit of the voltage-gated sodium channel Na(v)1.1. Disease modeling using patient-derived induced pluripotent stem cells (iPSCs) can be a powerful tool to reproduce this syndrome's human pathology. However, no such effort has been...

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PMID: 23639079
DOI: 10.1186/1756-6606-6-19

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