Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

Angelicheva, D., Tournev, I., Guergueltcheva, V., Mihaylova, V., Azmanov, D. N., Morar, B., Radionova, M., Smith, S.J., Zlatareva, D., Stevens, J.M., Kaneva, R., Bojinova, V., Carter, K., Brown, M.A., Jablensky, A., Kalaydjieva, L., & Sander, J.W. (2009) Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32. Epilepsia, 50(7), pp. 1679-1688.

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Abstract

PURPOSE

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.

DISCUSSION

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.

Impact and interest:

11 citations in Scopus
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9 citations in Web of Science®

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ID Code: 89412
Item Type: Journal Article
Refereed: Yes
Keywords: Founder populations, Linkage analysis, Partial epilepsy, adolescent, adult, article, child, chromosome 5q, clinical article, clinical feature, comorbidity, computer program, electroencephalography, familial temporal lobe epilepsy, female, focal epilepsy, gene locus, genetic linkage, genetic variability, gipsy, haplotype, human, intellectual impairment, male, mental disease, neuroimaging, nuclear magnetic resonance imaging, nucleotide sequence, phenotype, priority journal, school child, seizure, semi structured interview, single nucleotide polymorphism, temporal lobe epilepsy, chromosome 5, comparative study, Epilepsies, Partial, Epilepsy, Temporal Lobe, founder effect, genetics, Romani (people), statistics and numerical data, syndrome, Chromosomes, Human, Pair 5, Genetic Variation, Gypsies, Haplotypes, Humans, Magnetic Resonance Imaging, Polymorphism, Single Nucleotide
DOI: 10.1111/j.1528-1167.2009.02066.x
ISSN: 0013-9580
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 23 Oct 2015 04:13
Last Modified: 22 Aug 2016 02:49

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