Zhi-Dong Cen, Fei Xie, Dan-Ning Lou, Xing-Jiao Lu, Zhi-Yuan Ouyang, Ling Liu, Jin Cao, Dan Li, Hou-Min Yin, Zhong-Jin Wang, Jian-Feng Xiao, Wei Luo
Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole-exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree...
October 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics