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].

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