| Autor: |
Yao Ding, Zhidong Cen, Yang Zheng, Xia Qiu, Yumao Ye, Xinhui Chen, Lingli Hu, Bo Wang, Zhongjin Wang, Houmin Yin, Chunhong Shen, Wenjie Ming, Yi Ge, Fei Xie, Dehao Yang, Zhiyuan Ouyang, Haotian Wang, Sheng Wu, Meiping Ding, Shuang Wang, Wei Luo |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 414-423 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2328-9503 |
| DOI: |
10.1002/acn3.51961 |
| Popis: |
Abstract Objectives To investigate and characterize epileptic seizures and electrophysiological features of familial cortical myoclonic tremor with epilepsy (FCMTE) type 1 patients in a large Chinese cohort. Methods We systematically evaluated 125 FCMTEtype 1 patients carrying the pentanucleotide (TTTCA) repeat expansion in the SAMD12 gene in China. Results Among the 28 probands, epileptic seizures (96.4%, 27/28) were the most common reason for an initial clinic visit. Ninety‐seven (77.6%, 97/125) patients had experienced seizures. The seizures onset age was 36.5 ± 9.0 years, which was 6.9 years later than cortical tremors. The seizures were largely rare ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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