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Article

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.

Journal of medical genetics - 1 Oct 2009

Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S

Abstract excerpt

BACKGROUND: Several different missense mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign phenotype and patients with severe phenotype. However, the reason why similar missense mutations in SCN1A result in different phenotypes has not yet been fully clarified. OBJECTIVE: To clarify the phenotype-genotype relationship in SCN1A, a meta-analysis...

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Share to Epilepsy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrophobic and Hydrophilic Interactions

Share to Mutation, Missense

Share to NAV1.1 Voltage-Gated Sodium Channel

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Share to Protein Structure, Tertiary

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Source

Identifiers

PMID: 19586930
DOI: 10.1136/jmg.2008.060897

Provenance

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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