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:...

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Bibliographic Details
Published in:European journal of neurology 2009-06, Vol.16 (6), p.697-704
Main Authors: Fendri-Kriaa, N., Kammoun, F., Rebai, A., Kolsi, D., Hadj Salem, I., Fakhfakh, F., Triki, C.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
association
Child
Child, Preschool
DNA Mutational Analysis
Epilepsy, Generalized - ethnology
Epilepsy, Generalized - genetics
Epilepsy, Generalized - metabolism
Female
GABRG2
GEFS
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing
Genotype
Haplotypes - genetics
Humans
Male
Microsatellite Repeats - genetics
Middle Aged
mutation
Mutation - genetics
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - genetics
Pedigree
Polymorphism, Single Nucleotide - genetics
Receptors, GABA-A - genetics
SCN1A
SNP
Sodium Channels - genetics
Tunisia
Young Adult
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Summary: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.
ISSN:1351-5101
1468-1331
1471-0552
DOI:10.1111/j.1468-1331.2009.02570.x