Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME

Neurology. 2003 Apr 22;60(8):1381-5. doi: 10.1212/01.wnl.0000055874.24000.4a.

Abstract

Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Child
  • Chromosomes, Human, Pair 2 / genetics*
  • Evoked Potentials, Somatosensory
  • Female
  • Genes, Dominant
  • Genetic Heterogeneity
  • Humans
  • Italy / epidemiology
  • Lod Score
  • Male
  • Middle Aged
  • Myoclonic Epilepsies, Progressive / epidemiology
  • Myoclonic Epilepsies, Progressive / genetics*
  • Pedigree
  • Syndrome
  • Tremor / genetics