Comprehensive Genetic, Clinical and Electrophysiological Studies of Familial Cortical Myoclonic Tremor with Epilepsy 1 Highlight the Role of Gene Configurations
Familial cortical myoclonic tremor with epilepsy (FCMTE) was first described in the 1990s in Japan [1,2] and is characterized by hereditary distal tremor-like myoclonus and infrequent generalized epileptic seizures. Autosomal dominant FCMTEs have been linked to 8q24 in Japanese and Chinese (FCMTE1,OMIM 601068), [3 –5] 2q11.2 in Italian (FCMTE2 OMIM 607876) [6–9], 5p15.31-p15 in French and Dutch (FCMTE3 OMIM 613608) [10], and 3q26.32-3q28 in the Thai pedigree (FCMTE4 OMIM 615127) [11]. An autosomal recessive FCMTE family in Egypt has been mapped to 1q31.3-q32.2 (FCMTE5 OMIM 615400) [12].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Sipei Pan, Xuying Li, Liping Li, Hua Lin, Dequan Wang, Xiating Zhang, Xin Zhao, Jing Ye, Zhaoyang Huang, Yicong Lin, Yiran Duan, Rui Ma, Lehong Gao, Chaodong Wang, Yuping Wang Source Type: research
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