Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition with loci identified on chromosomes 19q12-13.1 and 16p12-q12. We examined sixteen Italian BFIS pedigrees. Families with SCN2A or ATP1A2 mutations were excluded. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Genetic heterogeneity was evaluated with both models. Clinical information was available for 124 members of affected families. BFIS was diagnosed in 69 subjects. Evidence of linkage was obtained only for chromosome 16. Moreover, the high penetrance allowed the identification of genetic heterogeneity. Our data confirm the relevance of the chromosome 16 locus in BFIS and show that the genetic model used affects the outcome of linkage analysis.
|Translated title of the contribution||Linkage analysis and disease models in benign familial infantile seizures (BFIS): A study of 16 families|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology