4.2 Article

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

Journal

INTERNATIONAL JOURNAL OF NEUROSCIENCE
Volume 120, Issue 3, Pages 217-221

Publisher

TAYLOR & FRANCIS LTD
DOI: 10.3109/00207450903477779

Keywords

benign familial infantile seizures; candidate gene; epilepsy; epileptogenesis; mutation; single nucleotide polymorphism

Categories

Funding

  1. National Natural Science Foundation of China [30400261]
  2. National High-Tech Research and Development Program of China (863 Projects) [2004AA227040, 2006AA02A408]
  3. Major State Basic Research Development Program of China (973 Program) [2006cb500700]
  4. Science and Technology Project of Hunan Province [08FJ3168]

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Benign familial infantile seizures (BFIS) is an autosomal dominant epileptic syndrome characterized by afebrile partial seizures with or without secondary generalized tonic-clonic seizures beginning at three to ten months of age. Genetic studies have revealed three susceptibility chromosomal loci on 19q12-q13.1, 16p12-q12 and 2q24. Previously we described the novel locus on 1p36.12-p35.1 for a Chinese family affected with BFIS, and below is a subsequent mutation analysis of candidate genes for the mapped chromosome region. Forty-five genes were selected and subjected to mutation analysis. Thirty-six nucleotide variants were found, none of which led to pathogenic changes, thereby were identified as nucleotide polymorphisms. The analyses suggest those candidate genes that were detected might not be involved in the epileptogenesis of pure BFIS, at least in the Chinese family we studied.

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