Genetics of febrile seizure subtypes and syndromes: a twin study

Eckhaus, Jazmin, Lawrence, Kate M., Helbig, Ingo, Bui, Minh, Vadlamudi, Lata, Hopper, John L., Scheffer, Ingrid E. and Berkovic, Samuel F. (2013) Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Research, 105 1-2: 103-109. doi:10.1016/j.eplepsyres.2013.02.011

Author Eckhaus, Jazmin
Lawrence, Kate M.
Helbig, Ingo
Bui, Minh
Vadlamudi, Lata
Hopper, John L.
Scheffer, Ingrid E.
Berkovic, Samuel F.
Title Genetics of febrile seizure subtypes and syndromes: a twin study
Journal name Epilepsy Research   Check publisher's open access policy
ISSN 0920-1211
Publication date 2013-07
Sub-type Article (original research)
DOI 10.1016/j.eplepsyres.2013.02.011
Open Access Status
Volume 105
Issue 1-2
Start page 103
End page 109
Total pages 7
Place of publication Amsterdam, Netherlands
Publisher Elsevier
Collection year 2014
Language eng
Formatted 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.
Keyword Febrile seizures
Twin study
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
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