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Article

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.

Proceedings of the National Academy of Sciences of the United States of America - 12 Apr 2022

Nappi Mario, Barrese Vincenzo, Carotenuto Lidia, Lesca Gaetan, Labalme Audrey, Ville Dorothee, Smol Thomas, Rama Mélanie, Dieux-Coeslier Anne, Rivier-Ringenbach Clotilde, Soldovieri Maria Virginia, Ambrosino Paolo, Mosca Ilaria, Pusch Michael, Miceli Francesco, Taglialatela Maurizio

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological features, and various degrees of developmental delay. Mutations in KCNQ2, KCNQ3, and, more rarely, KCNQ5 genes encoding voltage-gated potassium channel subunits variably contributing to excitability control of specific neuronal populations...

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Identifiers

PMID: 35377796
DOI: 10.1073/pnas.2116887119
PMCID: PMC9169635

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