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Article

Autism-associated mutations in KV7 channels induce gating pore current.

Proceedings of the National Academy of Sciences of the United States of America - 9 Nov 2021

Gamal El-Din Tamer M, Lantin Timothy, Tschumi Christopher W, Juarez Barbara, Quinlan Meagan, Hayano Julia H, Li Jin, Zweifel Larry S, Catterall William A

Abstract excerpt

Autism spectrum disorder (ASD) adversely impacts >1% of children in the United States, causing social interaction deficits, repetitive behaviors, and communication disorders. Genetic analysis of ASD has advanced dramatically through genome sequencing, which has identified >500 genes with mutations in ASD. Mutations that alter arginine gating charges in the voltage sensor of the voltage-gated potassium (KV)...

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Identifiers

PMID: 34728568
DOI: 10.1073/pnas.2112666118
PMCID: PMC8609342

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