title: [Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].
abstract: OBJECTIVE
  To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.
  
  
  METHODS
  Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.
  
  
  RESULTS
  A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.
  
  
  CONCLUSIONS
  A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.
authors: Institute of Neuroscience, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, People's Republic of China.
authors: Wen
authors: W
authors: Li
authors: Mei-pin
authors: MP
authors: Zhang
authors: Zhong-jun
authors: ZJ
authors: Hou
authors: Tao
authors: T
authors: Zeng
authors: Bin
authors: B
authors: Tang
authors: Xiao-rong
authors: XR
authors: Liu
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002648:Child; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000175:diagnosis / Q000235:genetics*; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides