Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

M. Malacarne, E. Gennaro, F. Madia, S. Pozzi, D. Vacca, B. Barone, B. Dalla Bernardina, A. Bianchi, P. Bonanni, P. De Marco, A. Gambardella, L. Giordano, M. L. Lispi, A. Romeo, E. Santorum, F. Vanadia, M. Vecchi, P. Veggiotti, F. Vigevano, F. ViriF. D. Bricarelli, F. Zara

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Abstract

In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330. A maximum multipoint HLOD score of 6.29 was obtained under the hypothesis of genetic heterogeneity. Furthermore, the clustering of chromosome 2q24-linked families in southern Italy may indicate a recent founder effect. In our series, 40% of the families are linked to neither chromosome 19q or 2q loci, suggesting that at least three loci are involved in BFIC. This finding is consistent with other autosomal dominant idiopathic epilepsies in which different genes were found to be implicated.

Original languageEnglish
Pages (from-to)1521-1526
Number of pages6
JournalAmerican Journal of Human Genetics
Volume68
Issue number6
DOIs
Publication statusPublished - 2001

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ASJC Scopus subject areas

  • Genetics

Cite this

Malacarne, M., Gennaro, E., Madia, F., Pozzi, S., Vacca, D., Barone, B., Dalla Bernardina, B., Bianchi, A., Bonanni, P., De Marco, P., Gambardella, A., Giordano, L., Lispi, M. L., Romeo, A., Santorum, E., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., ... Zara, F. (2001). Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. American Journal of Human Genetics, 68(6), 1521-1526. https://doi.org/10.1086/320596