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Article

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Epilepsia - 1 Dec 2012

Goeggel Simonetti Barbara, Rieubland Claudine, Courage Carolina, Strozzi Susi, Tschumi Sibylle, Gallati Sabina, Lemke Johannes R

Abstract excerpt

PURPOSE: Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions. Duplications involving multiple genes encoding for different sodium channels are not widely known. This article summarizes the clinical, radiologic, and genetic features of patients with 2q24 duplication involving...

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Identifiers

PMID: 23016767
DOI: 10.1111/j.1528-1167.2012.03676.x

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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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