Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.

Abstract excerpt

Pathogenic variants in SCN1A result in a spectrum of phenotypes ranging from mild febrile seizures to Dravet syndrome, a severe infant-onset epileptic encephalopathy. Individuals with Dravet syndrome have developmental delays, elevated risk for sudden unexpected death in epilepsy (SUDEP), and have multiple seizure types that are often refractory to treatment. Although most Dravet syndrome variants arise de novo,...

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• Share to Chromosomes, Human, Pair 11
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