No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1

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 of this study was to investigate the role of this locus in a set of seven newly identified families with at least three affected case...

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Published in:Epilepsia (Copenhagen) 1999-12, Vol.40 (12), p.1799-1803
Main Authors: Gennaro, Elena, Malacarne, Michela, Carbone, Ilaria, Riggio, Maria Concetta, Bianchi, Amedeo, Bonanni, Paolo, Boniver, Clementina, Bernardina, Bernardo Dalla, Marco, Pasquale, Giordano, Lucio, Guerrini, Renzo, Santorum, Enrica, Sebastianelli, Rosella, Vecchi, Marilena, Veggiotti, Pierangelo, Vigevano, Federico, Bricarelli, Franca Dagna, Zara, Federico
Format: Article
Language:English
Subjects:
Benign familial infantile convulsions
Biological and medical sciences
Chromosome 19q12‐q13.1
Chromosome Mapping
Chromosomes, Human, Pair 19 - genetics
Epilepsy
Family
Female
Genetic Linkage
Genetic Markers
Genotype
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Italy - epidemiology
Linkage analysis
Male
Medical sciences
Nervous system (semeiology, syndromes)
Neurology
Seizures - epidemiology
Seizures - genetics
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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 of this study was to investigate the role of this locus in a set of seven newly identified families with at least three affected cases. Methods: Five polymorphic microsatellite markers covering the BFIC locus on chromosome 19q have been typed, and parametric linkage analysis has been performed to analyze the segregation of the BFIC locus within our families. Results: Cumulative 2‐point lod scores and multipoint analysis showed no evidence of linkage between chromosome 19 markers and the BFIC phenotype. The analysis of family‐specific 2‐point lod scores and haplotypes, however, indicated the presence of linkage to chromosome 19q in a single family, suggesting genetic heterogeneity within our family sample. Conclusions: Our study demonstrates that the previously reported BFIC locus on chromosome 19q12–13.1 is not a major locus for BFICs. We suggest that genetic heterogeneity may have generated our discordant linkage findings, as it was reported in benign familial neonatal convulsions, a related idiopathic mendelian syndrome.
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1157.1999.tb01601.x