title: [A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].
abstract: OBJECTIVE
  To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis.
  
  
  METHODS
  All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in the proband, 16 family members and 72 unrelated normal individuals.
  
  
  RESULTS
  Linkage analysis hinted the linkage of BFNC to KCNQ2, while the linkage to KCNQ3 was excluded. Mutation 1931delG of KCNQ2 gene was found in the proband by DNA-direct sequencing. The same SSCP variant as the proband's was showed in the rest affected members of this family but not in the unaffected members of this family and all of the 72 unrelated normal individuals.
  
  
  CONCLUSIONS
  1931delG of KCNQ2 gene can cause BFNC in China and is novel mutation. The combination of linkage analysis and gene analysis is useful for gene diagnosis.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha Hunan, 410008 PR China.
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Li
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Ai-mei
authors.initials: AM
authors.lastname: Zhang
authors.forename: Qiu-hui
authors.initials: QH
authors.lastname: Cao
authors.forename: Gui-lian
authors.initials: GL
authors.lastname: Meng
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D009154:Mutation; D015221:Potassium Channels / Q000737:chemistry / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
chemical_list: D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated