Evidence Favoring Genetic Heterogeneity for Febrile Convulsions

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 i...

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Bibliographic Details
Published in:Epilepsia (Copenhagen) 2000-02, Vol.41 (2), p.132-139
Main Authors: Racacho, Lemuel J., McLachlan, Richard S., Ebers, George C., Maher, John, Bulman, Dennis E.
Format: Article
Language:English
Subjects:
Age of Onset
Biological and medical sciences
Child
Child, Preschool
Chromosomes, Human, Pair 19 - genetics
Chromosomes, Human, Pair 8 - genetics
Epilepsy - genetics
Family
Febrile convulsions
Genetic Heterogeneity
Genetic Linkage
Genetics
Genotype
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Linkage
Lod Score
Medical sciences
Microsatellite Repeats
Models, Genetic
Nervous system (semeiology, syndromes)
Neurology
Pedigree
Seizures, Febrile - genetics
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Summary: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.
ISSN:0013-9580
1528-1167
DOI:10.1111/j.1528-1157.2000.tb00132.x