Mutation detection in candidate genes for benign familial infantile seizures on a novel locus.
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.
Li
Nan
N
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Li
Haiyan
H
Jiang
Hong
H
Shen
Lu
L
Yan
Xinxiang
X
Guo
Jifeng
J
Song
Yanmin
Y
Yang
Qian
Q
Wang
Yaqin
Y
Li
Xiaobo
X
Xiang
Ruping
R
Zi
Xiaohong
X
Long
Xiaoyan
X
Hu
Zhengmao
Z
Pan
Qian
Q
Xia
Kun
K
Tang
Beisha
B
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
C464459:CLIC4 protein, human; D018118:Chloride Channels; D004247:DNA; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase