DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Wenwei LiuMiaomiao ChengYing ZhuYi ChenYing YangHui ChenXueyang NiuXiaojuan TianXiaoling YangYuehua ZhangPublished in: Developmental medicine and child neurology (2022)
The phenotypes of DYNC1H1-related epilepsy included multiple seizure types; the most common epileptic syndrome was West syndrome. CSWS is a new phenotype of DYNC1H1-related epilepsy. One-third of the variants in patients with epilepsy were located in the stalk domain. Most patients had a MCD and developmental delay.