Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy

P Perucca; K Stanley; N Harris; AM McIntosh; AA Asadi-Pooya; MA Mikati; DM Andrade; P Dugan; C Depondt; H Choi; EL Heinzen; GL Cavalleri; RJ Buono; O Devinsky; MR Sperling; SF Berkovic; N Delanty; DB Goldstein; TJ O'Brien; A Sen; CW Bazil; M Boland; S Colombo; D Costello; CP Doherty; W Frankel; D Goldstein; E Senab; M Johnson; P Kwan; T Marson; M McCormack; R Ottman; M Pandolfo; S Petrovski; R Radtke; M Rees; T Sadoway; N Valley; N Walley; N Wood; S Zuberi

Journal article

Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy

P Perucca, K Stanley, N Harris, AM McIntosh, AA Asadi-Pooya, MA Mikati, DM Andrade, P Dugan, C Depondt, H Choi, EL Heinzen, GL Cavalleri, RJ Buono, O Devinsky, MR Sperling, SF Berkovic, N Delanty, DB Goldstein, TJ O'Brien, A Sen Show all

Annals of Neurology | WILEY | Published : 2023

DOI: 10.1002/ana.26581

Abstract

Objective: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery. Methods: We performed an international, multicenter, whole exome sequencing study of patients who underwent surgery for drug-resistant, unilateral MTLE with normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis and ≥2-year postsurgical follow-up. Patients with either sustained seizure freedom (favorable outcome) or ongoing uncontrolled seizures since surgery (unfavorable outcome) were included. Exomes of controls without epilepsy were also included. Ge..

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University of Melbourne Researchers

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Grants

Awarded by National Institute for Medical Research Development

Funding Acknowledgements

This work has emanated from research supported in part by a research grant from the Science Foundation Ireland under grant number 16/RC/3948 and cofunded under the European Regional Development Fund. P.P. is supported by the National Health and Medical Research Council (APP1163708), the Epilepsy Foundation, the University of Melbourne, Monash University, Brain Australia, and the Weary Dunlop Medical Research Foundation. A.A.A.-P. is supported by a grant from the National Institute for Medical Research Development. D.M.A. is supported by EpLink, the Epilepsy arm of the Ontario Brain Institute. The authors are grateful to all individuals who participated in this study. 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.