Supporting evidence of a gene for partial epilepsy on 10q.
A four-generation family with nine individuals with temporal partial epilepsy was studied. Detailed epilepsy history was investigated by structured interview. All putatively affected family members underwent a standardized electroencephalographic examination. The phenotype in the family was characterized by a short acoustic aura followed by rapid secondary generalization. To examine if the trait is linked to a region on 10q (interval D10S185-D10S1671), which has been reported in two other epilepsy families with similar phenotypes, linkage analysis was performed using nine markers covering the previously reported region. A maximum two-point LOD score of 2.1 at a recombination fraction of zero was obtained. All living affected individuals shared the same haplotype, while three unaffected at-risk adults did not. This result presents supporting evidence of a gene for partial epilepsy on 10q.
Mautner
V F
VF
Department of Neurology, Klinikum Nord Ochsenzoll, Hamburg, Germany.
Lindenau
M
M
Gottesleben
A
A
Goetze
G
G
Kluwe
L
L
D000328:Adult; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic
D005819:Genetic Markers