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Article

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy.

Epilepsia - 1 Oct 2006

Morimoto Masafumi, Mazaki Emi, Nishimura Akira, Chiyonobu Tomohiro, Sawai Yasuko, Murakami Aki, Nakamura Keiko, Inoue Ikuyo, Ogiwara Ikuo, Sugimoto Tohru, Yamakawa Kazuhiro

Abstract excerpt

PURPOSE: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. METHODS: We performed mutation analyses of the sodium-channel gene SCN1A in two Japanese brothers with clinical features of SMEI and their parents, who had no history of febrile and epileptic seizures. RESULTS: Each patient showed nucleotide changes (c.[730G>T; 735G>T; 736A>T]) in the coding exon 6 of...

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PMID: 17054696
DOI: 10.1111/j.1528-1167.2006.00645.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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