Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy

CHD2 is a member of the chromodomain helicase DNA-binding (CHD) family of proteins. Chromatin remodeling is an important functional aspect of DNA repair and transcriptional control [1]. There are four major families of chromatin remodeling, one of which is the CHD family. The human CHD family of proteins consists of nine members (CHD1-9) and is characterized by chromatin organization modifier domains and SNF2-related helicase/ATPase domains. CHD family proteins regulate transcription by recognizing and binding DNA at specific sites and interacting with transcription factors, histones, other proteins, and protein complexes [2].

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