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Article

CHD2-Related CNS Pathologies.

International journal of molecular sciences - 8 Jan 2021

Wilson Marc-Michel, Henshall David C, Byrne Susan M, Brennan Gary P

Abstract excerpt

Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. This class of disorders are increasingly being identified as resulting from de novo genetic mutations including many identified mutations in the family of chromodomain helicase DNA binding (CHD) proteins. In particular, several de novo pathogenic mutations have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33435571
DOI: 10.3390/ijms22020588
PMCID: PMC7827033

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