Evidence favoring genetic heterogeneity for febrile convulsions.

Journal article

PURPOSE: Two large Canadian kindreds appearing to segregate febrile convulsions as an autosomal dominant trait were evaluated for linkage to three known FC loci, as well as other epilepsy loci. METHODS: Members of the two families were genotyped with microsatellite markers linked to the previously identified febrile convulsion loci, FEB1, FEB2, and GEFS+, and we performed two-point linkage analyses by assuming an autosomal dominant mode of inheritance. RESULTS: We report the exclusion of the FC trait in our families to FEB1 on 8q13-21 and to a second febrile convulsion locus on 19p13. Furthermore, we also excluded the GEFS+ locus on 19q13.1 as the cause of febrile convulsions in both kindreds. Microsatellite markers linked to juvenile myoclonic epilepsy (EJM1), benign neonatal familial convulsions EBN1 and EBN2, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), idiopathic generalized epilepsy (EGI), progressive myoclonic epilepsy of Unverricht-Lundborg (EPM1), and partial epilepsy with auditory features (EPT), were also excluded as potential loci linked to the FC trait in our families. CONCLUSIONS: These findings favor considerable genetic heterogeneity for febrile convulsions.

Authors: Racacho, L; McLachlan, R; Ebers, G; Maher, J; Bulman, D

• Publication status: Published
• Journal: Epilepsia
• Volume: 41
• Issue: 2
• Pages: 132-139
• Publication date: 2000-02-01
• DOI: 10.1111/j.1528-1157.2000.tb00132.x
• EISSN: 1528-1167
• ISSN: 0013-9580
• Language: English
• Keywords: Genetic Linkage; Genetic Heterogeneity; Models, Genetic; Child, Preschool; Chromosomes, Human, Pair 19; Age of Onset; Pedigree; Family; Microsatellite Repeats; Child; Epilepsy; Infant; Seizures, Febrile; Chromosomes, Human, Pair 8; Humans; Lod Score; Genotype