Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy,Annals of Clinical and Translational Neurology

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Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy
Annals of Clinical and Translational Neurology ( IF 5.3 ) Pub Date : 2021-05-21 , DOI: 10.1002/acn3.51374
Stefan Wolking _{1,

2,

3} , Claudia Moreau ₄ , Mark McCormack ₅ , Roland Krause ₆ , Martin Krenn ₇ , , Samuel Berkovic _{8,

9} , Gianpiero L Cavalleri _{10,

11,

12} , Norman Delanty _{10,

11,

13} , Chantal Depondt ₁₄ , Michael R Johnson ₁₂ , Bobby P C Koeleman ₁₅ , Wolfram S Kunz ₁₆ , Holger Lerche ₂ , Anthony G Marson _{17,

18,

19} , Terence J O'Brien _{20,

21} , Slave Petrovski ₂₂ , Josemir W Sander _{23,

24,

25} , Graeme J Sills ₂₆ , Pasquale Striano _{27,

28} , Federico Zara _{28,

29} , Fritz Zimprich ₇ , Sanjay M Sisodiya _{23,

24} , Simon L Girard ₄ , Patrick Cossette ₁

Affiliation

Université de Montréal, Montreal, Canada.
Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Department of Epileptology and Neurology, University of Aachen, Aachen, Germany.
Centre Intersectoriel en Santé Durable, Université du Québec à Chicoutimi, Saguenay, Canada.
Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Australia.
Department of Neurology, Austin Health, Heidelberg, Australia.
Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland.
FutureNeuro Research Centre, Science Foundation Ireland, Dublin, Ireland.
Division of Brain Sciences, Imperial College Faculty of Medicine, London, UK.
Division of Neurology, Beaumont Hospital, Dublin, Ireland.
Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Institute of Experimental Epileptology and Cognition Research and Department of Epileptology, University of Bonn, Bonn, Germany.
Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
The Walton Centre NHS Foundation Trust, Liverpool, UK.
Liverpool Health Partners, Liverpool, UK.
Departments of Medicine and Neurology, Royal Melbourne Hospital, University of Melbourne, Parkville, Australia.
Departments of Neuroscience and Neurology, The Central Clinical School, Monash University and The Alfred Hospital, Melbourne, Australia.
Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Chalfont Centre for Epilepsy, Chalfont-St-Peter, UK.
Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, Netherlands.
School of Life Sciences, University of Glasgow, Glasgow, UK.
Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy.
Laboratory of Neurogenetics and Neuroscience, IRCCS "G. Gaslini" Institute, Genova, Italy.

Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug-resistant epilepsy remains unchanged. In this study, we aimed to investigate the role of rare genetic variants in ASM resistance.

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