Article

Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes

2024-01-02

Abstract excerpt

Mutations in the genes encoding voltage-gated sodium channels (Na v ) family members are the most frequent cause of epilepsy. This study aims to screen Na v genes (SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, and SCN9A) to identify the sequence variations underlying epileptic phenotypes, including seizures, epileptic encephalopathies, and developmental delays. In this retrospective analysis, medical records of 1526 epilepsy...

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Literature Corpus work: a70f7918-9960-5182-9cba-d72c5a35cb42
DOI: 10.21203/rs.3.rs-3803340/v1

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