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., Jablensky, A., Kalaydjieva, L. and Sander, J. W. (2009) Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32. Epilepsia, 50 7: 1679-1688. doi:10.1111/j.1528-1167.2009.02066.x

Author 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.
Jablensky, A.
Kalaydjieva, L.
Sander, J. W.
Title Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32
Journal name Epilepsia   Check publisher's open access policy
ISSN 0013-9580
Publication date 2009-07
Sub-type Article (original research)
DOI 10.1111/j.1528-1167.2009.02066.x
Volume 50
Issue 7
Start page 1679
End page 1688
Total pages 10
Place of publication Oxford, England
Publisher Blackwell
Language eng
Subject 0604 Genetics
1103 Clinical Sciences
Formatted abstract
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.

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.


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.

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. © 2009 International League Against Epilepsy.
Keyword Founder populations
Temporal-lobe Epilepsy
Q-Index Code C1
Q-Index Status Provisional Code

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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