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Article

The unexpected role of copy number variations in juvenile myoclonic epilepsy.

Epilepsy & behavior : E&B - 1 Jul 2013

Helbig Ingo, Hartmann Corinna, Mefford Heather C

Abstract excerpt

Structural genomic variants or copy number variants (CNVs) comprise submicroscopic deletions and duplications of chromosomal material, including both rearrangements at genomic hotspots as well as duplications and deletions with unique breakpoints. Copy number variants have increasingly been recognized in the Idiopathic/Genetic Generalized Epilepsies (IGE/GGE) including juvenile myoclonic epilepsy (JME)....

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

Share to Myoclonic Epilepsy, Juvenile

Source

Identifiers

PMID: 23756484
DOI: 10.1016/j.yebeh.2012.07.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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