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SCN8A Encephalopathy: Case Report and Literature Review

1 Apr 2021

Abstract excerpt

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A...

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PMID: 33915942
DOI: 10.3390/neurolint13020014

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