Article

SCN8A gain-of-function mutation is associated with a relatively mild phenotype of epilepsy

2023-08-15

Abstract excerpt

SCN8A-associated epilepsy with encephalopathy has been identified in hundreds of individuals. The vast majority of cases are scattered de novo variants typically with an autosomal dominant expression often resulting in severe phenotypic expression. Familial inheritance has also been reported with diverse clinical features. The present study aimed determine the possible SCN8A pathogenic biophysical alterations asso...

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Literature Corpus work: e4e5fdee-8f9d-5b7c-8878-4aea3c1fff8a
DOI: 10.21203/rs.3.rs-3162958/v1

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