title: Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.
abstract: OBJECTIVE
  The present study aims to investigate the gene mutations of CHRNB2, CHRNA2 and CHRNA4 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
  
  
  METHODS
  257 ADNFLE patients (74 sporadic and 32 familial) were collected, including 42 pedigree patients and 215 sporadic cases. Exon mutational screening of CHRNB2, CHRNA2 and CHRNA4 was performed by direct PCR sequencing.
  
  
  RESULTS
  No published mutations of CHRNB2, CHRNA4 and CHRNA2 genes were detected in this study. Three kinds of c.SNP (c.66C> T, c.249C> T, c.375A> G) were detected on the 2(nd) and 5(th) exons of CHRNA2; six kinds of c.SNP (c.639T> C, c.678T> C, c.1209G> T, c.1227T> C, c.1659G> A, c.1629C> T) were detected on the 5(th) exon of CHRNA4. Three novel mutations were discovered, respectively locating on the exon 5 of CHRNA4 gene (c.570C> T), 5(th) and 6(th) exons of CHRNB2 gene (c.483C> T and c.1407C> G). The three mutations were absent in 200 healthy controls, indicating that the mutations were very rare.
  
  
  CONCLUSIONS
  CHRNA4, CHRNB2 and CHRNA2 may be not the causative genes of Chinese ADNFLE population. Whether the three novel synonymous mutations were genetic factors of ADNFLE pathogenesis in Chinese Han population needs to be further studied.
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Zhihong
authors: Z
authors: Chen
authors: Southern Medical University Guangzhou 510515, China.
authors: Lingan
authors: L
authors: Wang
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Chun
authors: C
authors: Wang
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Qian
authors: Q
authors: Chen
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Qiongxiang
authors: Q
authors: Zhai
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Yuxiong
authors: Y
authors: Guo
authors: Department of Pediatrics, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong Academy of Neuroscience Guangzhou 510080, China.
authors: Yuxin
authors: Y
authors: Zhang
keywords: CHRNA2 gene mutation; CHRNB2; Nocturnal frontal lobe epilepsy