Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

Hum Mol Genet. 1997 Mar;6(3):473-7. doi: 10.1093/hmg/6.3.473.

Abstract

Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life. Although they were first reported in families of Italian descent, BFIC have also been described in non-Italian families. We have mapped the BFIC gene to chromosome 19 by linkage analysis in five Italian families with a maximum two-point lod score of 6.36 at D19S114; maximum multipoint lod scores > 8 were obtained for the interval D19S250-D19S245. BFIC are therefore the third idiopathic partial epileptic syndrome to be mapped on the human genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Epilepsy / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Genotype
  • Haplotypes
  • Humans
  • Infant
  • Italy
  • Male
  • Microsatellite Repeats / genetics
  • Pedigree
  • Seizures / genetics

Substances

  • Genetic Markers