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Article

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.

Brain & development - 1 Feb 2009

Kumakura Akira, Ito Masatoshi, Hata Daisuke, Oh Norifumi, Kurahashi Hirokazu, Wang Ji-wen, Hirose Shinichi

Abstract excerpt

This report describes a 4-year-old male patient experienced prolonged febrile seizures after 1 year of age, multiple febrile seizures and complex partial seizures with secondary generalization. The gene encoding voltage-gated sodium channel alpha1-subunit: SCN1A analysis revealed a heterozygous de novo one-point mutation (IVS16+2 T>C) at a splice-acceptor site. This mutation was inferred to cause truncation of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18632234
DOI: 10.1016/j.braindev.2008.06.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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