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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus
European Journal of Neurology, Volume 16, No. 6, Year 2009
Notification
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Description
Background and purpose: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families. Methods: Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing. Results and conclusions: The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (K2 = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G>A) and a putative disease-associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families. © 2009 EFNS.
Authors & Co-Authors
Fendri-Kriaa, Nourhène
Tunisia, Sfax
Chu Hedi-chaker
Kammoun, Fatma
Tunisia, Sfax
Chu Hedi-chaker
REBAI, AHMED
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Kolsi, Dalinda
Tunisia, Sfax
Chu Hedi-chaker
Hadj-Salem, Ikhlass
Tunisia, Sfax
Faculty of Medicine of Sfax
Fakhfakh, Faiza
Tunisia, Sfax
Faculty of Medicine of Sfax
Triki, Chahnez Charfi
Tunisia, Sfax
Chu Hedi-chaker
Statistics
Citations: 15
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1111/j.1468-1331.2009.02570.x
ISSN:
13515101
e-ISSN:
14681331
Research Areas
Cancer
Genetics And Genomics