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Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy
IMPORTANCE: CHD2 is a member of the chromodomain helicase DNA‐binding (CHD) family of proteins, which have important roles in the regulation of gene expression. Dysregulation of this protein may lead to various disorders. OBJECTIVE: To delineate the genotypes and phenotypes of CHD2‐related epilepsy....
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218986/ https://www.ncbi.nlm.nih.gov/pubmed/35774528 http://dx.doi.org/10.1002/ped4.12321 |