title: [Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome].
abstract: OBJECTIVE
  To analyze the parental origin of de novo SCN1A mutations in 22 patients with Dravet syndrome (DS).
  
  
  METHODS
  Clinical data and peripheral blood DNA of the patients and their parents were collected. SCN1A gene mutation was screened by polymerase chain reaction (PCR) and Sanger sequencing. For de novo mutations, allele-specific-PCR (AS-PCR) was used to determine their parental origins. Should the mutations be of paternal origin, semen specimen for their fathers was analyzed using PCR and Sanger sequencing for SCN1A gene mutations.
  
  
  RESULTS
  The parental origins of 22 de novo mutations were successfully determined by AS-PCR. Nineteen (86.4%) of the mutations had a paternal origin and 3 (13.6%) had a maternal origin. For those with a paternal origin, semen samples from 9 fathers were analyzed, but no mutation was found.
  
  
  CONCLUSIONS
  The majority of de novo SCN1A mutations were of paternal origin. The same mutation was not found in semen samples from the fathers, for which deep sequencing may be necessary.
authors.affiliation: Department of Pediatrics, Beijing Jishuitan Hospital, Beijing 100035, P. R. China. zhangyhdr@126.com.
authors.forename: Huihui
authors.initials: H
authors.lastname: Sun
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Xu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human