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Article

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

Neuroscience - 1 Jan 2003

Spampanato J, Escayg A, Meisler M H, Goldin A L

Abstract excerpt

Nine mutations that cause generalized epilepsy with febrile seizures plus have been identified in the SCN1A gene encoding the alpha subunit of the Na(v)1.1 voltage-gated sodium channel. The functional properties of two of these mutations (T875M and R1648H) have previously been described. T875M was shown to enhance slow inactivation, while R1648H dramatically accelerated recovery from inactivation. In this report,...

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Source

Identifiers

PMID: 12535936
DOI: 10.1016/s0306-4522(02)00698-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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