Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families

Weber Y., Berger A., Bebek N., Maier S., Karafyllakes S., Meyer N., ...More

EPILEPSIA, vol.45, no.6, pp.601-609, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 6
  • Publication Date: 2004
  • Doi Number: 10.1111/j.0013-9580.2004.48203.x
  • Journal Name: EPILEPSIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.601-609
  • Istanbul University Affiliated: Yes

Abstract

Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families.