Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)

S Viswanathan; KL Oliver; BM Regan; AL Schneider; CT Myers; MG Mehaffey; AJ LaCroix; J Antony; R Webster; M Cardamone; GM Subramanian; ATG Chiu; E Roza; RI Teleanu; S Malone; RJ Leventer; D Gill; SF Berkovic; MS Hildebrand; BS Goad; KB Howell; JD Symonds; A Brunklaus; LG Sadleir; SM Zuberi; HC Mefford; IE Scheffer

Journal article

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)

S Viswanathan, KL Oliver, BM Regan, AL Schneider, CT Myers, MG Mehaffey, AJ LaCroix, J Antony, R Webster, M Cardamone, GM Subramanian, ATG Chiu, E Roza, RI Teleanu, S Malone, RJ Leventer, D Gill, SF Berkovic, MS Hildebrand, BS Goad Show all

Annals of Neurology | WILEY | Published : 2024

DOI: 10.1002/ana.27041

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Abstract

Objective: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike–wave activation in sleep (EE-SWAS). Methods: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101). Detailed phenotyping and analysis of molecular genetic results were performed. We compared the phenotypic features of individuals wit..

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University of Melbourne Researchers

Karen L Oliver Author

Amy Schneider Author

Rick Leventer Author

Sam Berkovic Author

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Awarded by Murdoch Children's Research Institute

Funding Acknowledgements

We thank the patients and their families for participating in our research. We thank Dr Matthew Edwards for referring a patient to the study.This work was supported by funding from the National Health and Medical Research Council (GNT1091593, GNT1196637, GNT1172897, GNT2006841), NIH (R01NS069605), Cure Kids New Zealand, Health Research Council of New Zealand, and Murdoch Children's Research Institute. Open access publishing facilitated by The University of Melbourne, as part of the Wiley -The University of Melbourne agreement via the Council of Australian University Librarians.