title: Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
abstract: OBJECTIVE
  The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome.
  
  
  METHODS
  Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data.
  
  
  RESULTS
  We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family.
  
  
  CONCLUSIONS
  The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel-encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.
authors.affiliation: Laboratory for Molecular Genetics, Centre for Medical Research and Western Australian Institute for Medical Research, The University of Western Australia, Perth, Australia.
authors.forename: Dora
authors.initials: D
authors.lastname: Angelicheva
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.forename: Violeta
authors.initials: V
authors.lastname: Mihaylova
authors.forename: Dimitar N
authors.initials: DN
authors.lastname: Azmanov
authors.forename: Bharti
authors.initials: B
authors.lastname: Morar
authors.forename: Melania
authors.initials: M
authors.lastname: Radionova
authors.forename: Shelagh J
authors.initials: SJ
authors.lastname: Smith
authors.forename: Dora
authors.initials: D
authors.lastname: Zlatareva
authors.forename: John M
authors.initials: JM
authors.lastname: Stevens
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.forename: Veneta
authors.initials: V
authors.lastname: Bojinova
authors.forename: Kim
authors.initials: K
authors.lastname: Carter
authors.forename: Matthew
authors.initials: M
authors.lastname: Brown
authors.forename: Assen
authors.initials: A
authors.lastname: Jablensky
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; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000453:epidemiology / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000453:epidemiology / Q000235:genetics; D005260:Female; D018703:Founder Effect; D008040:Genetic Linkage / Q000235:genetics; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D006178:Romani People / Q000235:genetics* / Q000706:statistics & numerical data; D013577:Syndrome