Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region

Neuropediatrics. 1993 Aug;24(4):211-3. doi: 10.1055/s-2008-1071542.

Abstract

Benign childhood epilepsy with centrotemporal spikes (BCECS, benign rolandic epilepsy) is a common form of genetically determined localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as a dominant trait in families with probands with BCECS. Seizures occur in a significant proportion of individuals with the fragile X syndrome in association with EEG abnormalities comparable to those found in BCECS. The possibility of a common genetic basis for these disorders was investigated by linkage analysis. Six pedigrees with probands with BCECS were analysed using a marker locus DXS548, close to the fragile X site, fra (X). Obligate recombinants between DXS548 and the fsw trait were observed in all six families. Assuming X-linked dominant inheritance and penetrance values of 0.4 (male) and 0.1 (female) a negative lod score of -6.823 was obtained at zero recombination and lod scores of -2.0 at 10cM either side of the fra (X) locus. These results exclude an important candidate gene for this common childhood disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Epilepsies, Partial / genetics*
  • Epilepsy, Temporal Lobe / genetics*
  • Female
  • Fragile X Syndrome / genetics*
  • Gene Frequency / genetics
  • Genes, Dominant / genetics
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Sex Chromosome Aberrations / genetics
  • X Chromosome

Substances

  • Genetic Markers