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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

11 Jul 2024

Abstract excerpt

Objectives: variants in patients presenting with genetic epileptic and developmental encephalopathy. Background: CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders....

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PMID: 39035822
DOI: 10.1212/nxg.0000000000200168

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