Chung, Chi-TingChi-TingChungNI-CHUNG LEEFan, Sung-PinSung-PinFanHung, Miao-ZiMiao-ZiHungYEN-HENG LINCHIH-HAO CHENTun Jao2023-06-092023-06-092023-0125899864https://scholars.lib.ntu.edu.tw/handle/123456789/632003DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associated with a pathogenic variant of DYNC1H1. We further summarized the clinical, genetic, and neuroimaging characteristics of patients with DYNC1H1 variant-associated epilepsy from the relevant literature. This report expands the phenotypic spectrum of DYNC1H1-related disorder to include early-onset epilepsy, which is frequently associated with neurodevelopmental delay and intellectual disability, malformations of cortical development, and neuromuscular, ophthalmic, and orthopedic involvement.enCMT, Charcot–Marie–Tooth disease; EEG, electroencephalography; Epilepsy; ID, intellectual disability; Intellectual disability; MCD, malformation of cortical development; MRI, magnetic resonance imaging; Malformations of cortical development; Neurodevelopmental delay; Pathogenic DYNC1H1 variant; SMALED, spinal muscular atrophy with lower extremity-predominancejournal article10.1016/j.ebr.2022.100580366364592-s2.0-85146008878WOS:000976242800001https://api.elsevier.com/content/abstract/scopus_id/85146008878