Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus 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 (χ2 = 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Journal of Neurology Wiley

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

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Publisher
Wiley
Copyright
© 2009 The Author(s). Journal compilation © 2009 EFNS
ISSN
1351-5101
eISSN
1468-1331
D.O.I.
10.1111/j.1468-1331.2009.02570.x
Publisher site
See Article on Publisher Site

Abstract

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 (χ2 = 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.

Journal

European Journal of NeurologyWiley

Published: Jun 1, 2009

References

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