Title : Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.

Pub. Date : 2020 Sep

PMID : 32750235






1 Functional Relationships(s)
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1 OBJECTIVE: We identified a novel de novo SCN2A variant (M1879T) associated with infantile-onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. Sodium sodium voltage-gated channel alpha subunit 2 Homo sapiens