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Genetics of febrile seizure subtypes and syndromes: a twin study.
Epilepsy Res 2013; 105(1-2):103-9ER

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.

Authors+Show Affiliations

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

23522981

Citation

Eckhaus, Jazmin, et al. "Genetics of Febrile Seizure Subtypes and Syndromes: a Twin Study." Epilepsy Research, vol. 105, no. 1-2, 2013, pp. 103-9.
Eckhaus J, Lawrence KM, Helbig I, et al. Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Res. 2013;105(1-2):103-9.
Eckhaus, J., Lawrence, K. M., Helbig, I., Bui, M., Vadlamudi, L., Hopper, J. L., ... Berkovic, S. F. (2013). Genetics of febrile seizure subtypes and syndromes: a twin study. Epilepsy Research, 105(1-2), pp. 103-9. doi:10.1016/j.eplepsyres.2013.02.011.
Eckhaus J, et al. Genetics of Febrile Seizure Subtypes and Syndromes: a Twin Study. Epilepsy Res. 2013;105(1-2):103-9. PubMed PMID: 23522981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of febrile seizure subtypes and syndromes: a twin study. AU - Eckhaus,Jazmin, AU - Lawrence,Kate M, AU - Helbig,Ingo, AU - Bui,Minh, AU - Vadlamudi,Lata, AU - Hopper,John L, AU - Scheffer,Ingrid E, AU - Berkovic,Samuel F, Y1 - 2013/03/21/ PY - 2012/08/31/received PY - 2012/12/27/revised PY - 2013/02/12/accepted PY - 2013/3/26/entrez PY - 2013/3/26/pubmed PY - 2014/2/12/medline SP - 103 EP - 9 JF - Epilepsy research JO - Epilepsy Res. VL - 105 IS - 1-2 N2 - 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. SN - 1872-6844 UR - https://www.unboundmedicine.com/medline/citation/23522981/Genetics_of_febrile_seizure_subtypes_and_syndromes:_a_twin_study_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0920-1211(13)00069-7 DB - PRIME DP - Unbound Medicine ER -