Genetic and phenotype studies of partial epilepsy in Gypsies

We have identified a Gypsy family with an epilepsy syndrome of autosomal    dominant inheritance and low penetrance, characterized by onset in childhood, partial seizures with semiology and EEG findings suggesting the involvement of variable cortical areas and secondary generalisation, and a relatively mild course despite the lack of systematic and controlled medication.

Eight of the 10 affected individuals had complex partial seizures with characteristics of temporal lobe epilepsy. MRI imaging and CT scans revealed no detectable structural brain abnormalities. Our linkage analysis excluded all loci reported previously in focal and generalised epilepsies.

We identified a novel locus at 5q31.3-q32, centromeric of a cluster of GABA-A (gamma-amino butyric acid A) receptor genes, associated with different forms of epilepsy reported in the literature, such as juvenile myoclonic epilepsy, childhood absence epilepsy, generalised epilepsy with febrile seizures plus type 3 and familiar febrile convulsions (Audanaert D et al 2006).   Further Gypsy pedigree with multiple affected members are currently under investigation.

Contact

Professor Luba Kalaydjieva +61 8 9346 3838 
Professor Assen Jablensky +61 8 9347 6416