Supporting evidence of a gene for partial epilepsy on 10q

Neurogenetics. 2000 Sep;3(1):31-4. doi: 10.1007/s100480000091.

Abstract

A four-generation family with nine individuals with temporal partial epilepsy was studied. Detailed epilepsy history was investigated by structured interview. All putatively affected family members underwent a standardized electroencephalographic examination. The phenotype in the family was characterized by a short acoustic aura followed by rapid secondary generalization. To examine if the trait is linked to a region on 10q (interval D10S185-D10S1671), which has been reported in two other epilepsy families with similar phenotypes, linkage analysis was performed using nine markers covering the previously reported region. A maximum two-point LOD score of 2.1 at a recombination fraction of zero was obtained. All living affected individuals shared the same haplotype, while three unaffected at-risk adults did not. This result presents supporting evidence of a gene for partial epilepsy on 10q.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • Electroencephalography
  • Epilepsy, Temporal Lobe / genetics*
  • Epilepsy, Temporal Lobe / physiopathology
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Phenotype
  • Recombination, Genetic

Substances

  • Genetic Markers