Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.

ABSTRACT: The chromodomain helicase DNA-binding (CHD) family of proteins are ATP-dependent chromatin remodelers that contribute to the reorganization of chromatin structure and deposition of histone variants necessary to regulate gene expression. CHD proteins play an important role in neurodevelopment, as pathogenic variants in CHD1, CHD2, CHD4, CHD7 and CHD8 have been associated with a range of neurological phenotypes, including autism spectrum disorder (ASD), intellectual disability (ID) and epilepsy. Pathogenic variants in CHD2 are associated with developmental epileptic encephalopathy (DEE) in humans, however little is known about how these variants contribute to this disorder. Of the nine CHD family members, CHD2 is the only one that leads to a brain-re

SUBMITTER: Lamar KJ 

PROVIDER: S-EPMC6013553 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature