Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region.
Benign childhood epilepsy with centrotemporal spikes (BCECS, benign rolandic epilepsy) is a common form of genetically determined localisation-related epilepsy of childhood. The characteristic age-dependent focal sharp wave (fsw) found on the EEG in this disorder segregates as a dominant trait in families with probands with BCECS. Seizures occur in a significant proportion of individuals with the fragile X syndrome in association with EEG abnormalities comparable to those found in BCECS. The possibility of a common genetic basis for these disorders was investigated by linkage analysis. Six pedigrees with probands with BCECS were analysed using a marker locus DXS548, close to the fragile X site, fra (X). Obligate recombinants between DXS548 and the fsw trait were observed in all six families. Assuming X-linked dominant inheritance and penetrance values of 0.4 (male) and 0.1 (female) a negative lod score of -6.823 was obtained at zero recombination and lod scores of -2.0 at 10cM either side of the fra (X) locus. These results exclude an important candidate gene for this common childhood disorder.
Rees
M
M
Department of Paediatrics, University College London Medical School, U.K.
Diebold
U
U
Parker
K
K
Doose
H
H
Gardiner
R M
RM
Whitehouse
W P
WP
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004828:Epilepsies, Partial / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
D005819:Genetic Markers