Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24

Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%–15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. Th...

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Bibliographic Details
Published in:American journal of human genetics 1998-10, Vol.63 (4), p.1117-1129
Main Authors: Fong, G.C.Y., Shah, Pravina U., Gee, Manyee N., Serratosa, Jose M., Castroviejo, Ignacio Pascual, Khan, Sonia, Ravat, Sangeeta H., Mani, Jayanthi, Huang, Y., Zhao, H.Z., Medina, Marco T., Treiman, Lucy J., Pineda, Gregorio, Delgado-Escueta, Antonio V.
Format: Article
Language:English
Subjects:
California
Child
Childhood absence epilepsy
Chromosome 8q24
Chromosome Mapping
Chromosomes, Human, Pair 8
Electroencephalography
Epilepsy, Tonic-Clonic - ethnology
Epilepsy, Tonic-Clonic - genetics
Female
Genetic Linkage
Genotype
Haplotype analysis
Haplotypes
Humans
Idiopathic generalized epilepsy
India - ethnology
Linkage analysis
Lod Score
Male
Pedigree
Recombination, Genetic
Saudi Arabia
Seizures - ethnology
Seizures - genetics
Spain
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Summary:Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%–15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected–pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3–4-Hz spike– and multispike–slow wave complexes were considered to be affected. Significant P values of .00000–.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score ( Z max) of 3.6 for D8S502. No other locus in the genome achieved a significant Z max. For five smaller multiplex families, summed Z max was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.
ISSN:0002-9297
1537-6605
DOI:10.1086/302066