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Article

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Neurology - 22 Oct 2013

Mullen Saul A, Carvill Gemma L, Bellows Susannah, Bayly Marta A, Trucks Holger, Lal Dennis, Sander Thoman, Berkovic Samuel F, Dibbens Leanne M, Scheffer Ingrid E, Mefford Heather C

Abstract excerpt

OBJECTIVE: We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study. METHODS: CNVs contribute to the genetics of multiple neurodevelopmental disorders with complex inheritance, including GGE and ID. Three hundred fifty-nine probands with GGE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24068782
DOI: 10.1212/WNL.0b013e3182a95829
PMCID: PMC3888172

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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