Associated Papers
Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.
Mavashov A et al.
Epilepsia, 2025
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Cogliati F et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric 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
Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.
Wang X et al.
Genes, 2022
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
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Petersen AK et al.
American Journal of Medical Genetics. Part A, 2018
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