title: Mutation detection in candidate genes for benign familial infantile seizures on a novel locus.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.forename: Haiyan
authors.initials: H
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Xinxiang
authors.initials: X
authors.lastname: Yan
authors.forename: Jifeng
authors.initials: J
authors.lastname: Guo
authors.forename: Yanmin
authors.initials: Y
authors.lastname: Song
authors.forename: Qian
authors.initials: Q
authors.lastname: Yang
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Wang
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Li
authors.forename: Ruping
authors.initials: R
authors.lastname: Xiang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zi
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Long
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
mesh_terms: D044466:Asian People; D018118:Chloride Channels / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004247:DNA / Q000032:analysis / Q000235:genetics; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D005796:Genes; D056726:Genetic Association Studies; D056426:Genetic Loci; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics
chemical_list: C464459:CLIC4 protein, human; D018118:Chloride Channels; D004247:DNA; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase