title: Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.
abstract: We aimed to characterise the phenotype and perform genetic studies in a family of Roma/Gypsy ethnicity, affected by epilepsy. The mean age at onset of epilepsy was 9 years and seizures persisted into adulthood. Antecedent febrile convulsions were rare. Seizure semiology and EEG findings suggested mesial temporal lobe origin with no evidence of hippocampal sclerosis. Seizures frequently generalised. Family structure suggested autosomal-dominant inheritance with incomplete penetrance. Linkage analysis identified a single novel locus on 7p21.3, corresponding to the expected maximum in the family. Previously reported temporal lobe epilepsy (TLE) loci were definitely excluded. The minimal shared haplotype of 2.4cM (1.3Mb) was not observed in other affected families or controls from the same population. Three brain-expressed validated genes in the critical region represent potential candidates. We have identified an epilepsy syndrome with temporal lobe seizures commonly evolving to generalised convulsions. Linkage to 7p21.3 adds up to a total of five currently known FTLE loci.
authors.affiliation: Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, QEII Medical Centre, B block, Nedlands, WA 6009, Australia. dazmanov@waimr.uwa.edu.au
authors.forename: Dimitar N
authors.initials: DN
authors.lastname: Azmanov
authors.forename: Sashka
authors.initials: S
authors.lastname: Zhelyazkova
authors.forename: Melania
authors.initials: M
authors.lastname: Radionova
authors.forename: Bharti
authors.initials: B
authors.lastname: Morar
authors.forename: Dora
authors.initials: D
authors.lastname: Angelicheva
authors.forename: Dora
authors.initials: D
authors.lastname: Zlatareva
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Luba
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: Josemir W
authors.initials: JW
authors.lastname: Sander
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D006178:Romani People / Q000235:genetics*; D055815:Young Adult