title: Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy.
abstract: OBJECTIVE
  To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE).
  
  
  METHODS
  Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing.
  
  
  RESULTS
  No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls.
  
  
  CONCLUSIONS
  No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.
authors.affiliation: Southern Medical University, Guangzhou 510515, China; Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Zhi-Hong
authors.initials: ZH
authors.lastname: Chen
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
authors.affiliation: Southern Medical University, Guangzhou 510515, China; Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Lin-Gan
authors.initials: LG
authors.lastname: Wang
authors.affiliation: Southern Medical University, Guangzhou 510515, China; Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Mu-Qing
authors.initials: MQ
authors.lastname: Zhuo
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Zhi-Hong
authors.initials: ZH
authors.lastname: Tang
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China. Electronic address: zhaiqiongxiang@sina.com.
authors.forename: Qiong-Xiang
authors.initials: QX
authors.lastname: Zhai
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Yu-Xiong
authors.initials: YX
authors.lastname: Guo
authors.affiliation: Department of pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience, Guangzhou 510080, China.
authors.forename: Yu-Xin
authors.initials: YX
authors.lastname: Zhang
keywords: Autosomal dominant nocturnal frontal epilepsy; CHRNA7; Gene; Mutation; Polymorphism