Associated Papers
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
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
CHD2-related epilepsy: novel mutations and new phenotypes.
Chen J et al.
Developmental Medicine and Child Neurology, 2020
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC et al.
Brain : a Journal of Neurology, 2015
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