title: [STXBP1 gene mutation in newborns with refractory seizures].
abstract: OBJECTIVE
  To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.
  
  
  METHODS
  The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.
  
  
  RESULTS
  STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L).
  
  
  CONCLUSIONS
  STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing100034, China. houxinlin66@sina.com.
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Liu
authors.forename: Xin-Lin
authors.initials: XL
authors.lastname: Hou
authors.forename: Cong-Le
authors.initials: CL
authors.lastname: Zhou
authors.forename: Ze-Zhong
authors.initials: ZZ
authors.lastname: Tang
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Bao
authors.forename: Yi
authors.initials: Y
authors.lastname: Jiang
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation; D012640:Seizures / Q000235:genetics*
chemical_list: D051938:Munc18 Proteins; C497937:STXBP1 protein, human