Clinical and genetic aspect of 30 tunisian families with febrile seizures

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Published Oct 3, 2019
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Vol. 97 No. 4 (2019): Issue Apr 2019

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Fatma Kamoun Feki
Norhene Fendri Kriaa
Dalinda Kolsi
Ahmed Rabai
Faiza Fakhfakh
Chahnez Charfi Triki

Abstract

Background: FS are the most benign occasional seizures in childhood. Little is known about the long term follow up.
 Aim: To describe a long term follow-up of FS in Tunisian families.
Methods: Field study was conducted for 30 patients with FS. We analyzed clinical phenotype of FS and associated afebrile seizures with genetic study.
Results: We collected 107 individuals with febrile and / or afebrile seizures. Afebrile seizures were found in 28.3% of patients. The "FS" phenotype was found in 18 families (60%), "GEFS +" in 7 (23.33%), and idiopathic generalized epilepsy in 5 (16.66%). Sequencing analyses of SCN1A, SCN1B and GABRG2 genes revealed a novel SCN1B gene mutation in one family with FS and a known SCN1A mutation in GEFS+ family.
Conclusion: If FS are apparently isolated and infrequent, they occur most often in a family setting. The genetic studies remain difficult mainly because of the lack of phenotype-genotype correlation

Keywords:

FS, GEFS+, clinical phenotype, genetic studies, Tunisia

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