title: Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.
abstract: Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was reported. In the El mouse, a major seizure susceptibility gene, El-1, segregates in an autosomal dominant fashion and has been localized to a region distal to the centromere of mouse ch 9. Comparative genetic maps between man and mouse have been used to predict the location of several human disease genes. The El-1 locus in the mouse is homologous to human chromosomes 3p23-p21.2, 3p11.2-q11.2, 3q21-q25.3, 6p12-q12 and 15q24. Polymorphic microsatellite markers covering these candidate regions were used for genotyping individuals in the three larger families ascertained, one of which is French-Canadian and two are Australian. Significant negative two-point and multipoint lod scores were obtained separately for each family, thus excluding linkage with the candidate regions on chromosomes 3, 6 and 15.
authors.affiliation: Centre for Research in Neuroscience, McGill University, Quebec, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: H A
authors.initials: HA
authors.lastname: Phillips
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: R
authors.initials: R
authors.lastname: Desbiens
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Cendes
authors.forename: S
authors.initials: S
authors.lastname: Verret
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000818:Animals; D001315:Australia; D002874:Chromosome Mapping; D002875:Chromosomes; D002884:Chromosomes, Human, Pair 15; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000032:analysis; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D051379:Mice; D010375:Pedigree; D011792:Quebec
chemical_list: D005819:Genetic Markers; D004247:DNA