title: Clinical and genetic study on a new Chinese family with benign familial infantile seizures.
abstract: Three loci for benign familial infantile seizures (BFIS, traditionally named benign familial infantile convulsions) have been mapped to the chromosome regions of 19q12-13.1, 2q24, and 16p12-q12. We characterized the clinical features of a newly discovered Chinese family with BFIS and investigated whether it is linked to these loci. A four-generation Chinese family was investigated and nineteen family members were examined. Fourteen microsatellite markers covering the three BFIS loci on the chromosome regions of 19q12-13.1, 2q24, and 16p12-q12 were genotyped. Linkage analysis was performed. The main clinical features of our patients include onset of afebrile seizures between 3 and 10 months, normal psychomotor development, normal interictal electroencephalogram (EEG), and autosomal dominant inheritance. Magnetic resonance imaging (MRI) changes were found in the proband. Two-point LOD scores are < -2.0 at the recombination rate of 0.0 for all the markers on the 2q24 region. Multipoint LOD scores are < -3.0 for the regions of 19q12-13.1 and 16p12-q12. Linkage analysis showed no evidence that the disease gene of this BFIS family is linked to the chromosome regions previously identified as the critical regions of the disease. Another chromosome region harboring the disease gene may exist in the new Chinese family.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: B
authors.initials: B
authors.lastname: Xiao
authors.forename: F-Y
authors.initials: FY
authors.lastname: Deng
authors.forename: G
authors.initials: G
authors.lastname: Xiong
authors.forename: K
authors.initials: K
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: X-D
authors.initials: XD
authors.lastname: Chen
authors.forename: Y-Z
authors.initials: YZ
authors.lastname: Liu
authors.forename: H-W
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002681:China; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers