Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11714
Title: Genetics of febrile seizure subtypes and syndromes: a twin study.
Authors: Eckhaus, Jazmin;Lawrence, Kate M;Helbig, Ingo;Bui, Minh;Vadlamudi, Lata;Hopper, John L;Scheffer, Ingrid E;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Issue Date: 21-Mar-2013
Citation: Epilepsy Research 2013; 105(1-2): 103-9
Abstract: 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.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.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+.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.
Internal ID Number: 23522981
URI: http://ahro.austin.org.au/austinjspui/handle/1/11714
DOI: 10.1016/j.eplepsyres.2013.02.011
URL: http://www.ncbi.nlm.nih.gov/pubmed/23522981
Type: Journal Article
Subjects: Child
Child, Preschool
Diseases in Twins.diagnosis.epidemiology.genetics
Female
Follow-Up Studies
Humans
Infant
Male
Registries
Retrospective Studies
Seizures, Febrile.diagnosis.epidemiology.genetics
Twins, Dizygotic.genetics
Twins, Monozygotic.genetics
Appears in Collections:Journal articles

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