Articles with "spectrum scn1a" as a keyword



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The fascinating phenotypic spectrum of SCN1A gain‐of‐function epilepsies

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Published in 2023 at "Epilepsia"

DOI: 10.1111/epi.17562

Abstract: SCN1A, long referred to as the most important epilepsy gene, continues to deliver exciting scientific surprises. It has always been associated with a broad phenotypic spectrum ranging from developmental and epileptic encephalopathies (DEEs), with Dravet… read more here.

Keywords: gof; spectrum scn1a; phenotypic spectrum; spectrum ... See more keywords