[Genetic anticipation in idiopathic epilepsies]

Rev Neurol. 1999 Oct;29(7):597-9.
[Article in Spanish]

Abstract

Introduction: In extended and multigenerational pedigrees, the idiopathic epilepsy phenotype shows an extreme variability.

Objective: The range of idiopathic epilepsy onset age in multigenerational pedigrees was studied in order to determine if genetic anticipation play a role in the heredity of Idiopathic Epilepsies.

Patients and methods: We compare the seizures onset age among relative-pairs of (parents-children, grandfathers-grandsons and nephew uncles). The mean onset age was compared using the Wilcoxon sign-rank paired-sample non-parametrical test to determine whether or not significant differences over > 0 exist, which refutes the null hypothesis of not anticipation. 84 pairs of relatives were taken from 72 extended multigenerational pedigrees.

Results: The onset age of idiopathic epilepsy of the pairs showed a difference significantly > 0, which confirm the existence of intergenerational differences. This difference has a tendency to decrease in age which each successive generation. This difference occur in all relative pairs and therefore contradicts the ascertainment bias described by Penrose.

Conclusions: The results outline the existence of unstable mutations (those produced by a nucleotidic variable number of tandem repeats) as a probable explanation of the susceptibility to develop some forms of idiopathic epilepsy.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epilepsy / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Surveys and Questionnaires