Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity Michela Malacarne, Elena Gennaro,

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Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity 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 The American Journal of Human Genetics Volume 68, Issue 6, Pages 1521-1526 (June 2001) DOI: 10.1086/320596 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees and chromosome 2q24 haplotypes in eight Italian families affected with BFIC. Families 1–4 are linked, whereas families 5–8 are unlinked. Blackened symbols indicate affected subjects, and unblackened symbols indicate individuals with no history of seizures. Question marks (?) within genetic symbols indicate undetermined status. Black vertical bars represent segregation of the disease chromosome within linked families. Hatched bars indicate the presence of a potential disease chromosome in absence of parental genotypes. In individual III-1 of family 6, haplotypes (in brackets) were arbitrarily assigned because of the lack of parental information. Families 1, 5, 6, 7, and 8 are, respectively, families 7, 5, 4, 6, and 2 in the Gennaro et al. (1999) report. The American Journal of Human Genetics 2001 68, 1521-1526DOI: (10.1086/320596) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Geographical distribution of BFIC families. Linked families are indicated with underlined numbers. The American Journal of Human Genetics 2001 68, 1521-1526DOI: (10.1086/320596) Copyright © 2001 The American Society of Human Genetics Terms and Conditions