title: Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.
abstract: OBJECTIVE
  Familial cortical myoclonic tremor with epilepsy (FCMTE) is an epileptic syndrome with autosomal dominant inheritance, of which four genetic subtypes (FCMTE1-4) have been reported. In the present study, we described the clinical and neurophysiologic features of a newly diagnosed Chinese FCMTE family, and investigated the genetic cause for this disease.
  
  
  METHODS
  Clinical information was obtained from affected and normal individuals of an FCMTE family comprising 41 members. Electroencephalographies were analyzed in five of six affected members (including the proband). Brain magnetic resonance imaging, somatosensory evoked potential with C-reflex analysis and magnetoencephalography was performed in the proband. Genomic DNA of three affected and two unaffected individuals was analyzed to detect the genetic mutations by using whole-exome sequencing.
  
  
  RESULTS
  The inheritance pattern of the pedigree was autosomal dominant. A novel missense mutation c.475C>T (p.Ala159Thr) of PLA2G6 were identified in this family. The mutated locus is highly conserved among other species. The mutation is predicted to have a functional impact, and completely co-segregated with the phenotype.
  
  
  CONCLUSIONS
  This study identifies a novel PLA2G6 mutation that is the possible genetic cause of FCMTE in this family. This mutation and associated clinical features expand the spectrum and phenotypes of PLA2G6-related disorders including neurodegenerative diseases.
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Lehong
authors: L
authors: Gao
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Liping
authors: L
authors: Li
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Jing
authors: J
authors: Ye
authors: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100101, China.
authors: Xilin
authors: X
authors: Zhu
authors: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100101, China.
authors: Ning
authors: N
authors: Shen
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Xiating
authors: X
authors: Zhang
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Dequan
authors: D
authors: Wang
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Yu
authors: Y
authors: Gao
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
authors: Hua
authors: H
authors: Lin
authors: Department of Neurology, Xuanwu Hospital, Capital Medical University, The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China. Electronic address: doctorwangyuping@163.com.
authors: Yuping
authors: Y
authors: Wang
authors: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100101, China. Electronic address: liuyingpumc@163.com.
authors: Ying
authors: Y
authors: Liu
mesh_terms: D000328:Adult; D044466:Asian People; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human
keywords: Cortical myoclonic tremor with epilepsy; PLA2G6; Whole-exome sequencing