Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Autor: Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., Kawalia, A., Toliat, M. R., Sander, T., Ruschendorf, F., Caliebe, A., Nagel, I., Kohl, B., Kecskes, A., Jacmin, M., Hardies, K., Weckhuysen, S., Riesch, E., Dorn, T., Brilstra, E. H., Baulac, S., Moller, R. S., Hjalgrim, H., Koeleman, B. P. C., Jurkat-Rott, K., Lehman-Horn, F., Roach, J. C., Glusman, G., Hood, L., Galas, D. J., Martin, B., de Witte, P. A. M., Biskup, S., De Jonghe, P., Helbig, I., Balling, R., Nurnberg, P., Crawford, A. D., Esguerra, C. V., Weber, Y. G., Lerche, H., Euro, Epinomics R. E. S. Consortium

Publikováno v: Nature genetics
Nature Genetics
Nature Genetics, Nature Publishing Group, 2014, 46 (12), pp.1327-1332. ⟨10.1038/ng.3130⟩
Schubert, J, Siekierska, A, Langlois, M, May, P, Huneau, C, Becker, F, Muhle, H, Suls, A, Lemke, J R, de Kovel, C G F, Thiele, H, Konrad, K, Kawalia, A, Toliat, M R, Sander, T, Ruschendorf, F, Caliebe, A, Nagel, I, Kohl, B, Kecskes, A, Jacmin, M, Hardies, K, Weckhuysen, S, Riesch, E, Dorn, T, Brilstra, E H, Baulac, S, Moller, R S, Hjalgrim, H, Koeleman, B P C, Jurkat-Rott, K, Lehman-Horn, F, Roach, J C, Glusman, G, Hood, L, Galas, D J, Martin, B, de Witte, P A M, Biskup, S, De Jonghe, P, Helbig, I, Balling, R, Nurnberg, P, Crawford, A D, Esguerra, C V, Weber, Y G, Lerche, H & Euro, E R E S C 2014, ' Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes ', Nature Genetics, vol. 46, no. 12, pp. 1327-1332 . https://doi.org/10.1038/ng.3130
Nature Genetics, 2014, 46 (12), pp.1327-1332. ⟨10.1038/ng.3130⟩

Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81e8ce2d73bf5a9ca0c2521b64a4bc1
https://pubmed.ncbi.nlm.nih.gov/25362483

Identification of Potential Antiseizure Agents in Boswellia sacra using In Vivo Zebrafish and Mouse Epilepsy Models.

Autor: Brillatz T; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Jacmin M; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, 6, avenue du Swing, 4367 Belvaux, Luxembourg.; Theracule S.á r.l., 9, avenue des Hauts-Fourneaux, 4362 Belval, Luxembourg., Queiroz EF; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Marcourt L; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Morin H; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Shahbazi N; Department of Preclinical Sciences & Pathology, Norwegian University of Life Sciences, Ullevålsveien 72, 0454 Oslo, Norway., Boulens N; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Riva A; Indena S.p.A., Viale Ortles 12, 20139 Milano, Italy., Crawford AD; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, 6, avenue du Swing, 4367 Belvaux, Luxembourg.; Theracule S.á r.l., 9, avenue des Hauts-Fourneaux, 4362 Belval, Luxembourg.; Department of Preclinical Sciences & Pathology, Norwegian University of Life Sciences, Ullevålsveien 72, 0454 Oslo, Norway., Allémann E; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland., Wolfender JL; School of Pharmaceutical Sciences, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.; Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU-Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.

Publikováno v: ACS chemical neuroscience [ACS Chem Neurosci] 2021 May 19; Vol. 12 (10), pp. 1791-1801. Date of Electronic Publication: 2021 Apr 29.

Antiseizure potential of the ancient Greek medicinal plant Helleborus odorus subsp. cyclophyllus and identification of its main active principles.

Autor: Brillatz T; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Jacmin M; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg 6, Avenue du Swing, 4367, Belvaux, Luxembourg; Theracule S.á r.l., 9, Avenue des Hauts-Fourneaux, 4362, Belval, Luxembourg., Vougogiannopoulou K; Department of Pharmacognosy and Natural Products Chemistry, Faculty of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece., Petrakis EA; Department of Pharmacognosy and Natural Products Chemistry, Faculty of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece., Kalpoutzakis E; Department of Pharmacognosy and Natural Products Chemistry, Faculty of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece., Houriet J; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Pellissier L; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Rutz A; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Marcourt L; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Queiroz EF; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland., Crawford AD; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg 6, Avenue du Swing, 4367, Belvaux, Luxembourg; Theracule S.á r.l., 9, Avenue des Hauts-Fourneaux, 4362, Belval, Luxembourg; Department of Preclinical Sciences & Pathology, Norwegian University of Life Sciences, Ullevålsveien 72, 0454, Oslo, Norway., Skaltsounis AL; Department of Pharmacognosy and Natural Products Chemistry, Faculty of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece. Electronic address: skaltsounis@pharm.uoa.gr., Wolfender JL; School of Pharmaceutical Sciences, Institute of Pharmaceutical Sciences of Western Switzerland, University of Geneva, CMU - Rue Michel Servet 1, CH-1211, Geneva 4, Switzerland. Electronic address: Jean-Luc.Wolfender@unige.ch.

Publikováno v: Journal of ethnopharmacology [J Ethnopharmacol] 2020 Sep 15; Vol. 259, pp. 112954. Date of Electronic Publication: 2020 May 21.

Zebrafish bioassay-guided isolation of antiseizure compounds from the Cameroonian medicinal plant Cyperus articulatus L.

Autor: Brillatz T; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland., Jacmin M; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, 6, avenue du Swing, Belvaux 4367, Luxembourg; Theracule S.á r.l., 9, avenue des Hauts-Fourneaux, Belval 4362, Luxembourg., Queiroz EF; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland., Marcourt L; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland., Slacanin I; ILIS Institut & Laboratory, Chemin de la Passerelle 17, Bienne CH-2503, Switzerland., Petit C; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland., Carrupt PA; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland., Bum EN; Department of Biological Sciences, Faculty of Sciences, University of Ngaoundéré, P.O. Box 454, Ngaoundéré, Cameroon., Herrling P; Novartis Pharma Ltd., Research, Basel CH-4002, Switzerland., Crawford AD; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, 6, avenue du Swing, Belvaux 4367, Luxembourg; Theracule S.á r.l., 9, avenue des Hauts-Fourneaux, Belval 4362, Luxembourg; Department of Preclinical Sciences & Pathology, Norwegian University of Life Sciences, Ullevålsveien 72, Oslo 0454, Norway., Wolfender JL; Institute of Pharmaceutical Sciences of Western Switzerland, CMU - Rue Michel-Servet 1, Geneva 4 CH-1211, Switzerland. Electronic address: jean-luc.wolfender@unige.ch.

Publikováno v: Phytomedicine : international journal of phytotherapy and phytopharmacology [Phytomedicine] 2020 Jan 23; Vol. 70, pp. 153175. Date of Electronic Publication: 2020 Jan 23.

Zebrafish-based identification of the antiseizure nucleoside inosine from the marine diatom Skeletonema marinoi.

Autor: Brillatz T; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Lauritano C; Integrative Marine Ecology Department, Stazione Zoologica Anton Dohrn, Napoli, Italy., Jacmin M; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, Belvaux, Luxembourg.; Theracule S.á r.l., Belval, Luxembourg., Khamma S; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Marcourt L; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Righi D; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Romano G; Integrative Marine Ecology Department, Stazione Zoologica Anton Dohrn, Napoli, Italy., Esposito F; Integrative Marine Ecology Department, Stazione Zoologica Anton Dohrn, Napoli, Italy., Ianora A; Integrative Marine Ecology Department, Stazione Zoologica Anton Dohrn, Napoli, Italy., Queiroz EF; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Wolfender JL; School of Pharmaceutical Sciences, EPGL, University of Geneva, University of Lausanne, Genève, Switzerland., Crawford AD; Luxembourg Centre for Systems Biomedicine, Université du Luxembourg, Belvaux, Luxembourg.; Theracule S.á r.l., Belval, Luxembourg.; Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Oslo, Norway.

Publikováno v: PloS one [PLoS One] 2018 Apr 24; Vol. 13 (4), pp. e0196195. Date of Electronic Publication: 2018 Apr 24 (Print Publication: 2018).