Behavioral phenotyping of young Scn1a haploinsufficient mice.

Abstract excerpt

Dravet syndrome is a rare, severe, infancy-onset epileptic encephalopathy associated with a high premature mortality. In most patients, Dravet syndrome is caused by a heterozygous loss-of-function mutation in the SCN1A gene encoding the alpha 1 subunit of the sodium channel. Of the variety of SCN1A variants identified in patients with Dravet syndrome, SCN1A missense mutations occur in one-third of cases. The...

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