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Article

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.

Epilepsia - 1 Jan 2022

Miceli Francesco, Guerrini Renzo, Nappi Mario, Soldovieri Maria Virginia, Cellini Elena, Gurnett Christina A, Parmeggiani Lucio, Mei Davide, Taglialatela Maurizio

Abstract excerpt

A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compared the functional consequences of three heterozygous de novo variants (p.P403S, p.P405L, and p.P405S) in Kv1.1 pore region found in four patients with severe...

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Identifiers

PMID: 34778950
DOI: 10.1111/epi.17118
PMCID: PMC9299230

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