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

Elena Gennaro, Michela Malacarne, Ilaria Carbone, Maria Concetta Riggio, Amedeo Bianchi, Paolo Bonanni, Clementina Boniver, Bernardo Dalla Bernardina, Pasquale De Marco, Lucio Giordano, Renzo Guerrini, Enrica Santorum, Rosella Sebastianelli, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Franca Dagna Bricarelli, Federico Zara

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1799-1803
Number of pages5
JournalEpilepsia
Volume40
Issue number12
Publication statusPublished - 1999

Keywords

  • Benign familial infantile convulsions
  • Chromosome 19q12-q13.1
  • Epilepsy
  • Linkage analysis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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  • Cite this

    Gennaro, E., Malacarne, M., Carbone, I., Riggio, M. C., Bianchi, A., Bonanni, P., Boniver, C., Bernardina, B. D., De Marco, P., Giordano, L., Guerrini, R., Santorum, E., Sebastianelli, R., Vecchi, M., Veggiotti, P., Vigevano, F., Bricarelli, F. D., & Zara, F. (1999). No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1. Epilepsia, 40(12), 1799-1803.