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Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Wolking, Stefan; Schulz, Herbert; Nies, Anne T; McCormack, Mark; Schaeffeler, Elke; Auce, Pauls; Avbersek, Andreja; Becker, Felicitas; Klein, Karl M; Krenn, Martin; Møller, Rikke S; Nikanorova, Marina; Weckhuysen, Sarah; Consortium, EpiPGx; Cavalleri, Gianpiero L; Delanty, Norman; Depondt, Chantal; Johnson, Michael R; Koeleman, Bobby Pc; Kunz, Wolfram S; Marson, Anthony G; Sander, Josemir W; Sills, Graeme J; Striano, Pasquale; Zara, Federico; Zimprich, Fritz; Weber, Yvonne G; Krause, Roland; Sisodiya, Sanjay; Schwab, Matthias; Sander, Thomas; Lerche, Holger.
Affiliation
  • Wolking S; Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Schulz H; Department of Neurosciences, CHUM Research Center, University of Montreal, Montreal, H2X 0A9, Canada.
  • Nies AT; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • McCormack M; Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Schaeffeler E; University of Tübingen, 72076 Tübingen, Germany.
  • Auce P; Molecular & Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, D02 YN77, Ireland.
  • Avbersek A; Dr Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376 Stuttgart, Germany.
  • Becker F; University of Tübingen, 72076 Tübingen, Germany.
  • Klein KM; Walton Centre NHS Foundation Trust, Liverpool, L33 4YD, UK.
  • Krenn M; Department of Clinical & Experimental Epilepsy, UCL Queen Square Institute of Neurology, London & Chalfont Centre for Epilepsy, London, SL9 0RJ, UK.
  • Møller RS; Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
  • Nikanorova M; Epilepsy Center Frankfurt Rhine-Main, University Hospital Frankfurt, Goethe University Frankfurt, 60590 Frankfurt, Germany.
  • Weckhuysen S; Department of Neurology, Medical University of Vienna, 1090 Vienna, Austria.
  • Consortium E; Danish Epilepsy Centre - Filadelfia, 4293 Dianalund, Denmark.
  • Cavalleri GL; Department of Regional Health Research, University of Southern Denmark, 5000 Odense, Denmark.
  • Delanty N; Danish Epilepsy Centre - Filadelfia, 4293 Dianalund, Denmark.
  • Depondt C; Neurogenetics Group, Center for Molecular Neurology, VIB-University of Antwerp, 2650 Edegem, Belgium.
  • Johnson MR; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Edegem, Belgium.
  • Koeleman BP; Department of Neurology, Antwerp University Hospital, 2650 Edegem, Belgium.
  • Marson AG; Molecular & Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, D02 YN77, Ireland.
  • Sander JW; Division of Brain Sciences, Imperial College Faculty of Medicine, London, SW2 2AZ, UK.
  • Sills GJ; Molecular & Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, D02 YN77, Ireland.
  • Striano P; Division of Neurology, Beaumont Hospital, Dublin 9, Ireland.
  • Zara F; The FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin, D02 YN77, Ireland.
  • Zimprich F; Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium.
  • Weber YG; Division of Brain Sciences, Imperial College Faculty of Medicine, London, SW2 2AZ, UK.
  • Krause R; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
  • Sisodiya S; Institute of Experimental Epileptology & Cognition Research & Department of Epileptology, University of Bonn, 53127 Bonn, Germany.
  • Schwab M; Department of Molecular & Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, L69 7ZB, UK.
  • Sander T; Department of Clinical & Experimental Epilepsy, UCL Queen Square Institute of Neurology, London & Chalfont Centre for Epilepsy, London, SL9 0RJ, UK.
  • Lerche H; Stichting Epilepsie Instellingen Nederland (SEIN), 2103 Heemstede, The Netherlands.
Pharmacogenomics ; 21(5): 325-335, 2020 04.
Article in En | MEDLINE | ID: mdl-32308125
Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE - responsive or nonresponsive to lamotrigine, levetiracetam and valproic acid. Results: Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p <10-5) but no significant association reflecting its limited power. The suggestive associations highlight candidate genes that are implicated in epileptogenesis and neurodevelopment. Conclusion: This first GWAS of AED response in GGE provides a comprehensive reference of SNP associations for hypothesis-driven candidate gene analyses in upcoming pharmacogenetic studies.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Genome-Wide Association Study / Anticonvulsants Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Pharmacogenomics Journal subject: FARMACOLOGIA / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Genome-Wide Association Study / Anticonvulsants Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Pharmacogenomics Journal subject: FARMACOLOGIA / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: