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Article

Sodium channelopathies in neurodevelopmental disorders.

Nature reviews. Neuroscience - 1 Mar 2021

Meisler Miriam H, Hill Sophie F, Yu Wenxi

Abstract excerpt

The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a significant burden of neurological disease. Recent progress in identification and functional characterization of patient variants is generating new insights and novel approaches to therapy for these devastating disorders. Here we review the...

Topics

Animals
Channelopathies
Humans
Mutation
NAV1.1 Voltage-Gated Sodium Channel
NAV1.2 Voltage-Gated Sodium Channel
NAV1.6 Voltage-Gated Sodium Channel
Neurodevelopmental Disorders
Sodium Channels
Voltage-Gated Sodium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33531663
DOI: 10.1038/s41583-020-00418-4
PMCID: PMC8710247

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