Genetics of epilepsy: The testimony of twins in the molecular era

L Vadlamudi; RL Milne; K Lawrence; SE Heron; J Eckhaus; D Keay; M Connellan; Y Torn-Broers; RA Howell; JC Mulley; IE Scheffer; LM Dibbens; JL Hopper; SF Berkovic

Journal article

Genetics of epilepsy: The testimony of twins in the molecular era

L Vadlamudi, RL Milne, K Lawrence, SE Heron, J Eckhaus, D Keay, M Connellan, Y Torn-Broers, RA Howell, JC Mulley, IE Scheffer, LM Dibbens, JL Hopper, SF Berkovic

Neurology | Published : 2014

DOI: 10.1212/WNL.0000000000000790

Abstract

Objective: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicability of the 2010 International League Against Epilepsy (ILAE) organization of epilepsy syndromes, and to integrate molecular genetics with phenotypic analyses. Methods: A total of 558 twin pairs suspected to have epilepsy were ascertained from twin registries (69%) or referral (31%). Casewise concordance estimates were calculated for epilepsy syndromes. Epilepsies were then grouped according to the 2010 ILAE organizational scheme. Molecular genetic information was utilized where applicable. Results: Of 558 twin pairs, 418 had confirmed seizures. A total of 534 twin ..

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University of Melbourne Researchers

Roger Milne Author

Kate Esnault Author

Ingrid Scheffer Author

Sam Berkovic Author

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Grants

Awarded by National Health & Medical Research Council (NHMRC)

Awarded by NHMRC

Awarded by Health and Medical Research, Preventive Health, Queensland Department of Health

Funding Acknowledgements

This research was facilitated through access to the Australian Twin Registry, a national resource supported by an enabling grant (ID 628911) from the National Health & Medical Research Council (NHMRC). Supported by NHMRC program grants (S.F.B., I.E.S.; IDs: 400121 and 628952), an Australia Fellowship (S.F.B.; ID: 466671), a Practitioner Fellowship (I.E.S.), and Health Research Fellowship Funding (L.V.) by Health and Medical Research, Preventive Health, Queensland Department of Health.