Associated Papers
CHD2-related developmental and epileptic encephalopathy: A phenotypic mimic of progressive myoclonic epilepsy.
Chityala A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2026
Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.
You C et al.
Seizure, 2024
Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.
Melikishvili G et al.
Epilepsia Open, 2024
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing.
Gamirova R et al.
Journal of Human Genetics, 2024
CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.
Angelopoulou E et al.
Heliyon, 2023
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.
Zhu L et al.
Frontiers in Genetics, 2022
Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.
Luo X et al.
Frontiers in Cell and Developmental Biology, 2022
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
Wang Y et al.
Scientific Reports, 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
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