Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.

Robert J Carton^1,2, Michael G Doyle^1,2,3,4, Hugh Kearney^1,3, Charles A Steward⁵, Nicholas J Lench⁵, Anthony Rogers⁵, Erin L Heinzen⁶, Seamus McDonald², Joanna Fay⁷, Austin Lacey¹, Alan Beausang⁸, Jane Cryan⁸, Francesca Brett⁸, Hany El-Naggar^1,3, Peter Widdess-Walsh^1,3, Daniel Costello^1,9, Ronan Kilbride^1,3, Colin P Doherty^1,10, Kieron J Sweeney^1,3, Donncha F O'Brien^1,3, David C Henshall¹, Norman Delanty^1,2,3, Gianpiero L Cavalleri^1,2, Katherine A Benson^1,2

¹FutureNeuro Science Foundation Ireland Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.

²School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

³Epilepsy Programme, Department of Neurology, Beaumont Hospital, Dublin, Ireland.

⁴Strategic Academic Recruitment Doctor of Medicine Programme, Royal College of Surgeons in Ireland in collaboration with Blackrock Clinic, Dublin, Ireland.

⁵Congenica Limited, BioData Innovation Centre, Cambridge, UK.

⁶Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

⁷Royal College of Surgeons in Ireland Biobanking Service, Dublin, Ireland.

⁸Department of Neuropathology, Beaumont Hospital, Dublin, Ireland.

⁹Department of Neurology, Cork University Hospital, Cork, Ireland.

¹⁰Department of Neurology, St. James's Hospital, Dublin, Ireland.

PubMed PMC DOI PDF

Abstract

OBJECTIVE: The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-…

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