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Article

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

Epilepsy & behavior : E&B - 1 Oct 2015

Trivisano Marina, Striano Pasquale, Sartorelli Jacopo, Giordano Lucio, Traverso Monica, Accorsi Patrizia, Cappelletti Simona, Claps Dianela Judith, Vigevano Federico, Zara Federico, Specchio Nicola

Abstract excerpt

Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. Twenty...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26262932
DOI: 10.1016/j.yebeh.2015.06.029

Genes

CHD2

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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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