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SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

18 Jun 2025

Abstract excerpt

A large number of cases with Dravet syndrome (DS) has been attributed to SCN1A loss of function (LOF), whereas SCN1A gain-of-function (GOF) causes early infantile developmental and epileptic encephalopathy (EIDEE) and familial hemiplegic migraine 3. We retrospectively analyzed 37 individuals with SCN1A pathogenic variants at our institute between January 2012 and October 2024 to investigate phenotype-function...

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PMID: 40530598
DOI: 10.1002/epi4.70080

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