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Article

Genotype‐function‐phenotype correlations for SCN1A variants identified by clinical genetic testing

21 Jan 2025

Abstract excerpt

OBJECTIVE: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype...

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Identifiers

PMID: 39838578
DOI: 10.1002/acn3.52297

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