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Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application

30 Mar 2020

Abstract excerpt

Genetic variants in brain-expressed voltage-gated sodium channels (SCNs) have emerged as one of the most frequent causes of Mendelian forms of epilepsy and neurodevelopmental disorders (NDDs). This review explores the biological concepts that underlie sodium channel NDDs, explains their phenotypic heterogeneity, and appraises how this knowledge may inform clinical practice. We observe that excitatory/inhibitory...

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PMID: 32227486
DOI: 10.1111/dmcn.14519

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