Further evidence of Genetic heterogeneity in families with Generalized Epilepsy with febrile seizure plus.
Abstract number :
3.342
Submission category :
11. Human Genetics
Year :
2007
Submission ID :
8088
Source :
www.aesnet.org
Presentation date :
11/30/2007 12:00:00 AM
Published date :
Nov 29, 2007, 06:00 AM
Authors :
A. Mrabet1, H. Mrabet1, N. Belhedi2, C. Bouchlaka2
Rationale: To investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to Generalised Epilepsy with Febrile Seizure Plus (GEFS+) in two Tunisian families. Methods: We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing.Results: The data excluded the involvement of all known published mutation. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents.Conclusions: Our results corroborate the considerable genetic heterogeneity of GEFS+ predominately in patients with epilepsy of different countries and ethnic groups
Genetics