https://scholars.lib.ntu.edu.tw/handle/123456789/632003
標題: | DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum | 作者: | Chung, Chi-Ting NI-CHUNG LEE Fan, Sung-Pin Hung, Miao-Zi YEN-HENG LIN CHIH-HAO CHEN Tun Jao |
關鍵字: | CMT, 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-predominance | 公開日期: | 一月-2023 | 出版社: | ELSEVIER SCIENCE INC | 卷: | 21 | 起(迄)頁: | 100580 | 來源出版物: | Epilepsy and Behavior Reports | 摘要: | DYNC1H1 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/632003 | ISSN: | 25899864 | DOI: | 10.1016/j.ebr.2022.100580 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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