Genetics of febrile seizure subtypes and syndromes: a twin study

Epilepsy Res. 2013 Jul;105(1-2):103-9. doi: 10.1016/j.eplepsyres.2013.02.011. Epub 2013 Mar 21.

Abstract

Purpose: Febrile seizures (FS) are the most common seizure syndrome. A strong genetic component has been well established through family and twin studies; however, such studies have not examined the genetics of different FS types (simple, complex, febrile status epilepticus) and sub-syndromes (true FS, febrile seizures plus (FS+), 'FS with later epilepsy'). Here we used a community-based twin sample to analyze genetic factors within different FS subtypes and FS syndromes.

Methods: Twin pairs were ascertained from the twin database of the Epilepsy Research Centre. A retrospective chart review was conducted and follow-up attempted for all subjects. Casewise concordance values were calculated for the different subgroups and intra-pair variation was analyzed.

Key findings: One hundred and seventy-nine twin pairs with FS were identified. Overall casewise concordance for FS in monozygotic (MZ) twins (0.62) was greater than in dizygotic (DZ) twins (0.16, p<0.0001). A greater concordance amongst MZ pairs than DZ twin pairs was also observed for all FS subtypes and FS sub-syndromes, particularly in twins with FS+. Within concordant MZ pairs, we did not observe the co-occurrence of FS and FS+.

Significance: These results suggest a strong genetic contribution to different FS subtypes and sub-syndromes. They also support the existence of distinct genetic factors for different FS subtypes and sub-syndromes, especially FS+. This information is important for the strategic planning of next generation sequencing studies of febrile seizures.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Child
  • Child, Preschool
  • Diseases in Twins / diagnosis
  • Diseases in Twins / epidemiology
  • Diseases in Twins / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Registries
  • Retrospective Studies
  • Seizures, Febrile / diagnosis
  • Seizures, Febrile / epidemiology
  • Seizures, Febrile / genetics*
  • Twins, Dizygotic / genetics*
  • Twins, Monozygotic / genetics*