Associated Papers
Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.
Mavashov A et al.
Epilepsia, 2025
Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.
You C et al.
Seizure, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
LaFlamme CW et al.
Nature Communications, 2024
39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM5_ESM.xlsx › SupplementaryData2B
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.
Zhu L et al.
Frontiers in Genetics, 2022
35222528 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_S1.xlsx › single-nucleotide_or_indel
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
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC et al.
Brain : a Journal of Neurology, 2015
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Chénier S et al.
Journal of Neurodevelopmental Disorders, 2014
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A et al.
American Journal of Human Genetics, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
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