Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy.
OBJECTIVE
To map the gene causing an unusual EEG pattern of delta bursts that appears to segregate as an autosomal dominant trait in an Italian family. The EEG pattern was observed in four family members affected by idiopathic generalized epilepsy (IGE) and in six other clinically unaffected members.


METHODS
All available family members underwent clinical and EEG examination. DNA samples were obtained and used to perform a whole-genome scan with 270 microsatellite markers. After the first linked marker was identified, 12 additional markers in the same chromosomal region were tested to confirm linkage and define a candidate interval.


RESULTS
The gene responsible for the EEG trait was mapped to an 11-cM interval on the proximal short arm of chromosome 3 (3p14.2-p12.1).


CONCLUSIONS
In this family, a characteristic EEG activity is due to the effect of a single gene on chromosome 3p. A gene encoding a Ca2+ channel subunit maps in the interval and is a potential candidate for the trait. The clinical expression of epilepsy in four family members may reflect the interaction of additional genes, though environmental or other factors cannot be excluded.
Zara
F
F
Ospedale Galliera, Genova, Italy.
Labuda
M
M
Garofalo
P G
PG
Durisotti
C
C
Bianchi
A
A
Castellotti
B
B
Patel
P I
PI
Avanzini
G
G
Pandolfo
M
M
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000235:genetics / Q000503:physiopathology*; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D010375:Pedigree