No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.

摘要: Summary: Purpose: A locus for benign familial convulsions (BFICs) has been recently mapped on chromosome 19q12–13.1 by studying five families of Italian descent. The main goal this study was to investigate the role in a set seven newly identified with at least three affected cases. Methods: Five polymorphic microsatellite markers covering BFIC 19q have typed, and parametric linkage analysis performed analyze segregation within our families. Results: Cumulative 2-point lod scores multipoint showed no evidence between 19 phenotype. family-specific haplotypes, however, indicated presence single family, suggesting genetic heterogeneity family sample. Conclusions: Our demonstrates that previously reported is not major BFICs. We suggest may generated discordant findings, as it neonatal convulsions, related idiopathic mendelian syndrome.