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Article

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.

Epilepsia - 1 Sept 2008

Wang Ji-wen, Kurahashi Hirokazu, Ishii Atsushi, Kojima Toshio, Ohfu Masaharu, Inoue Takahito, Ogawa Atsushi, Yasumoto Sawa, Oguni Hirokazu, Kure Shigeo, Fujii Tatsuya, Ito Masatoshi, Okuno Takehiko, Shirasaka Yukiyoshi, Natsume Jun, Hasegawa Aki, Konagaya Akihiko, Kaneko Sunao, Hirose Shinichi

Abstract excerpt

PURPOSE: Genetic abnormalities of the gene encoding alpha1 subunit of the sodium channel (SCN1A), which can be detected by direct sequencing, are present in more than 60% of patients with severe myoclonic epilepsy in infancy (SMEI) or its borderline phenotype (SMEB). Microchromosomal deletions have been recently reported as additional causes of SMEI. This study examines whether such microdeletions are associated...

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Identifiers

PMID: 18479393
DOI: 10.1111/j.1528-1167.2008.01609.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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