Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.

Abstract excerpt

Mutations in KCNA2, which encodes Kv1.2, have been reported to be associated with developmental and epileptic encephalopathy (DEE), however, little is known about the underlying mechanisms. Herein, we identified a novel KCNA2 mutation (c.1175C > T, p.S392F) in two unrelated patients with DEE. We further investigated the functional consequences of this mutation by western-blotting, immunocytochemistry, cell death...

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