title: No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.
abstract: OBJECTIVE
  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.
authors.affiliation: Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Gennaro
authors.forename: M
authors.initials: M
authors.lastname: Malacarne
authors.forename: I
authors.initials: I
authors.lastname: Carbone
authors.forename: M C
authors.initials: MC
authors.lastname: Riggio
authors.forename: A
authors.initials: A
authors.lastname: Bianchi
authors.forename: P
authors.initials: P
authors.lastname: Bonanni
authors.forename: C
authors.initials: C
authors.lastname: Boniver
authors.forename: B
authors.initials: B
authors.lastname: Dalla Bernardina
authors.forename: P
authors.initials: P
authors.lastname: De Marco
authors.forename: L
authors.initials: L
authors.lastname: Giordano
authors.forename: R
authors.initials: R
authors.lastname: Guerrini
authors.forename: E
authors.initials: E
authors.lastname: Santorum
authors.forename: R
authors.initials: R
authors.lastname: Sebastianelli
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 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*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D012640:Seizures / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005819:Genetic Markers