title: [Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy].
abstract: OBJECTIVE
  To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
  
  
  METHODS
  Two hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.
  
  
  RESULTS
  The results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.
  
  
  CONCLUSIONS
  This results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.
authors: Department of Pediatric Neurology, Guangdong Neuroscience Institute, Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, P.R. China. zhaiqiongxiang@sina.com.
authors: Qiong-xiang
authors: QX
authors: Zhai
authors: Chun
authors: C
authors: Wang
authors: Qian
authors: Q
authors: Chen
authors: Yu-xiong
authors: YX
authors: Guo
authors: Zhi-hong
authors: ZH
authors: Chen
authors: Yu-xin
authors: YX
authors: Zhang
authors: Juan
authors: J
authors: Gui
authors: Zhi-hong
authors: ZH
authors: Tang
authors: Mu-qing
authors: MQ
authors: Zhuo
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011978:Receptors, Nicotinic / Q000235:genetics*; D055815:Young Adult
chemical_list: D011978:Receptors, Nicotinic