IndraLab

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SCN1A activates NAV1. 2 / 2
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"SCN1A haploinsufficiency producing Nav1.1 dysfunction mainly affects GABAergic neurons, which according to the affected site, cortex, cerebellum, basal ganglia, or hypothalamus, are the cause of epileptic seizure, ataxia, crouching gait, thermal dysregulation, and sleep disturbances [XREF_BIBR, XREF_BIBR, XREF_BIBR, XREF_BIBR]."

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"Furthermore, Dravet syndrome, one of the most severe forms of childhood epilepsy, is caused by mutations in SCN1A encoding Nav1.1 [reviewed in], or a mutation in SCN1B encoding Nav channel beta1 subunit."