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

AbstractPURPOSE:
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.
METHODS:
We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed.
RESULTS:
The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136.
CONCLUSIONS:
Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.
AuthorsYvonne G Weber, Andrea Berger, Nerses Bebek, Sabine Maier, Skevos Karafyllakes, Nancy Meyer, Yukio Fukuyama, Anne Halbach, Christiane Hikel, Gerhard Kurlemann, Bernd Neubauer, Makiko Osawa, Burkhard Püst, Dietz Rating, Kayoko Saito, Ulrich Stephani, Ulrike Tauer, Frank Lehmann-Horn, Karin Jurkat-Rott, Holger Lerche
JournalEpilepsia (Epilepsia) Vol. 45 Issue 6 Pg. 601-9 (Jun 2004) ISSN: 0013-9580 [Print] United States
PMID15144424 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Genetic Markers
Topics
  • Adolescent
  • Adult
  • Aged
  • Brain (physiopathology)
  • Brain Mapping
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16 (genetics)
  • Electroencephalography
  • Epilepsy, Benign Neonatal (genetics, physiopathology)
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes (genetics)
  • Humans
  • Male
  • Middle Aged
  • Phenotype

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