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Article

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.

Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2014

Jingami Naoto, Matsumoto Riki, Ito Hirotaka, Ishii Atsushi, Ihara Yukiko, Hirose Shinichi, Ikeda Akio, Takahashi Ryosuke

Abstract excerpt

Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A 27-year-old man with no history of FS/FS+ experienced...

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PMID: 24842605
DOI: 10.1684/epd.2014.0657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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