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

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

Abstract 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 individual...

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Main Authors: Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, Eri Takeshita, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Takashi Saito, Eiji Nakagawa, Atsushi Ishii, Shinichi Hirose, Mitsuhiro Kato, Naomichi Matsumoto, Hirofumi Komaki, Ken Inoue
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Epilepsia Open
Subjects:
Dravet syndrome
epilepsy
epileptic encephalopathy
gain of function
SCN1A
sodium channel
Online Access:https://doi.org/10.1002/epi4.70080
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https://doi.org/10.1002/epi4.70080

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