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Article

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Epilepsia - 1 Sept 2010

Heron Sarah E, Scheffer Ingrid E, Grinton Bronwyn E, Eyre Helen, Oliver Karen L, Bain Sharon, Berkovic Samuel F, Mulley John C

Abstract excerpt

A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked to KCNQ2, KCNQ3, and SCN2A were examined to exclude candidate locations, but instead revealed a duplication detected by observation of three alleles for two markers...

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Source

Identifiers

PMID: 20384724
DOI: 10.1111/j.1528-1167.2010.02558.x

Genes

KCNQ2
KCNQ3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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