title: Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
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.
authors.affiliation: Laboratorio di Genetica Umana, E.O. Ospedali Galliera, 16128 Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Malacarne
authors.forename: E
authors.initials: E
authors.lastname: Gennaro
authors.forename: F
authors.initials: F
authors.lastname: Madia
authors.forename: S
authors.initials: S
authors.lastname: Pozzi
authors.forename: D
authors.initials: D
authors.lastname: Vacca
authors.forename: B
authors.initials: B
authors.lastname: Barone
authors.forename: B
authors.initials: B
authors.lastname: dalla Bernardina
authors.forename: A
authors.initials: A
authors.lastname: Bianchi
authors.forename: P
authors.initials: P
authors.lastname: Bonanni
authors.forename: P
authors.initials: P
authors.lastname: De Marco
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: L
authors.initials: L
authors.lastname: Giordano
authors.forename: M L
authors.initials: ML
authors.lastname: Lispi
authors.forename: A
authors.initials: A
authors.lastname: Romeo
authors.forename: E
authors.initials: E
authors.lastname: Santorum
authors.forename: F
authors.initials: F
authors.lastname: Vanadia
authors.forename: M
authors.initials: M
authors.lastname: Vecchi
authors.forename: P
authors.initials: P
authors.lastname: Veggiotti
authors.forename: F
authors.initials: F
authors.lastname: Vigevano
authors.forename: F
authors.initials: F
authors.lastname: Viri
authors.forename: F D
authors.initials: FD
authors.lastname: Bricarelli
authors.forename: F
authors.initials: F
authors.lastname: Zara
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D016013:Likelihood Functions; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D005819:Genetic Markers