CHD2 ‐related epilepsy: novel mutations and new phenotypes
Author:
Affiliation:
1. Department of Pediatrics Peking University First Hospital Beijing China
2. Department of Pediatrics Xuanwu Hospital Capital Medical University Beijing China
3. Department of Pediatrics Guangdong 999 Brain Hospital Guangzhou China
Funder
Capital Health Research and Development of Special
Publisher
Wiley
Subject
Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14367
Reference27 articles.
1. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
2. De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
3. CHD2variants are a risk factor for photosensitivity in epilepsy
4. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
5. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
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1. Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy;Seizure: European Journal of Epilepsy;2024-10
2. Effectiveness of add‐on acetazolamide in children with drug‐resistant CHD2‐related epilepsy and in a zebrafish CHD2 model;Epilepsia Open;2024-08-24
3. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy;Neurology Genetics;2024-08
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