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  • Title: Clinical and genetic aspect of 30 tunisian families with febrile seizures.
    Author: Kamoun Feki F, Fendri Kriaa N, Kolsi D, Rabai A, Fakhfakh F, Charfi Triki C.
    Journal: Tunis Med; 2019 Apr; 97(4):525-532. PubMed ID: 31729702.
    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.
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