作者
Michela Malacarne, Elena Gennaro, Francesca Madia, Sarah Pozzi, Daniela Vacca, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Paolo Bonanni, Pasquale De Marco, Antonio Gambardella, Lucio Giordano, Maria Luisa Lispi, Antonino Romeo, Enrica Santorum, Francesca Vanadia, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Franco Viri, Franca Dagna Bricarelli, Federico Zara
发表日期
2001/6/1
期刊
The American Journal of Human Genetics
卷号
68
期号
6
页码范围
1521-1526
出版商
Elsevier
简介
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.
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