Clinical and genetic study on a new Chinese family with benign familial infantile seizures.

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.
AuthorsB Xiao, F-Y Deng, G Xiong, K Wang, J Zhang, X-D Chen, Y-Z Liu, H-W Deng
JournalEuropean journal of neurology (Eur J Neurol) Vol. 12 Issue 5 Pg. 344-9 (May 2005) ISSN: 1351-5101 [Print] England
PMID15804263 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Genetic Markers
  • Adult
  • Brain (pathology)
  • Child, Preschool
  • China
  • Epilepsy, Benign Neonatal (genetics)
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Infant
  • Lod Score
  • Magnetic Resonance Imaging
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Polymerase Chain Reaction

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: