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Article

Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel.

Proceedings of the National Academy of Sciences of the United States of America - 9 Apr 2024

Eltokhi Ahmed, Lundstrom Brian Nils, Li Jin, Zweifel Larry S, Catterall William A, Gamal El-Din Tamer M

Abstract excerpt

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social and communication deficits and repetitive behaviors. The genetic heterogeneity of ASD presents a challenge to the development of an effective treatment targeting the underlying molecular defects. ASD gating charge mutations in the KCNQ/KV7 potassium channel cause gating pore currents (Igp) and impair action potential...

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Identifiers

PMID: 38564633
DOI: 10.1073/pnas.2317769121
PMCID: PMC11009634

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