Clinical and genetic aspect of 30 tunisian families with febrile seizures

Tunis Med. 2019 Apr;97(4):525-532.

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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Consanguinity
  • Epilepsy, Generalized / epidemiology
  • Epilepsy, Generalized / genetics
  • Female
  • Follow-Up Studies
  • Haplotypes
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • NAV1.1 Voltage-Gated Sodium Channel / genetics
  • Pedigree*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Prospective Studies
  • Receptors, GABA-A / genetics
  • Seizures, Febrile / epidemiology*
  • Seizures, Febrile / genetics*
  • Tunisia / epidemiology
  • Voltage-Gated Sodium Channel beta-1 Subunit / genetics
  • Young Adult

Substances

  • GABRG2 protein, human
  • NAV1.1 Voltage-Gated Sodium Channel
  • Receptors, GABA-A
  • SCN1A protein, human
  • SCN1B protein, human
  • Voltage-Gated Sodium Channel beta-1 Subunit

Supplementary concepts

  • Epilepsy, Idiopathic Generalized