Kamoun Feki Fatma, Fendri Kriaa Norhene, Kolsi Dalinda, Rabai Ahmed, Fakhfakh Faiza, Charfi Triki Chahnez
Tunis Med. 2019 Apr;97(4):525-532.
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.
Field study was conducted for 30 patients with FS. We analyzed clinical phenotype of FS and associated afebrile seizures with genetic study.
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.
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.
热性惊厥是儿童期最常见的良性偶发性惊厥。关于其长期随访了解甚少。目的：描述突尼斯家庭中热性惊厥的长期随访情况。
对30例热性惊厥患者进行了实地研究。我们分析了热性惊厥的临床表型以及与发热性惊厥相关的无热惊厥，并进行了基因研究。
我们收集了107例有发热性和/或无热惊厥的个体。28.3%的患者出现了无热惊厥。18个家庭（60%）出现了“热性惊厥”表型，7个家庭（23.33%）出现了“热性惊厥附加症（GEFS+）”，5个家庭（16.66%）出现了特发性全身性癫痫。对SCN1A、SCN1B和GABRG2基因的测序分析显示，一个热性惊厥家庭中发现了一种新的SCN1B基因突变，在热性惊厥附加症（GEFS+）家庭中发现了一种已知的SCN1A突变。
如果热性惊厥明显孤立且不常见，它们最常发生在家族环境中。基因研究仍然困难，主要是因为缺乏表型-基因型相关性。
