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

Julian Schubert , Aleksandra Siekierska , Mélanie Langlois (1) , Patrick May (2, 3) , Clément Huneau (4) , Felicitas Becker , Hiltrud Muhle , Arvid Suls (5) , Johannes R Lemke (6) , Carolien G F de Kovel , Holger Thiele (7) , Kathryn Konrad , Amit Kawalia , Mohammad R Toliat , Thomas Sander , Franz Rüschendorf , Almuth Caliebe , Inga Nagel , Bernard Kohl , Angela Kecskés , Maxime Jacmin , Katia Hardies (8) , Sarah Weckhuysen (9) , Erik Riesch , Thomas Dorn , Eva H Brilstra , Stéphanie Baulac (10) , Rikke S Møller , Helle Hjalgrim (11) , Bobby P C Koeleman , Karin Jurkat-Rott , Frank Lehman-Horn , Jared C Roach , Gustavo Glusman , Leroy Hood , David J Galas , Benoit Martin (12) , Peter de Witte (13) , Saskia Biskup (14) , Peter de Jonghe (15) , Ingo Helbig (16) , Rudi Balling , Peter Nürnberg (17) , Alexander D Crawford , Camila V Esguerra , Yvonne G Weber , Holger Lerche

1 GIN - [GIN] Grenoble Institut des Neurosciences
2 LCSB - Luxembourg Centre For Systems Biomedicine
3 ISB - Institute for Systems Biology [Seattle]
4 LTSI - Laboratoire Traitement du Signal et de l'Image
5 Neurogenetics Group
6 Institut für Humangenetik
7 University of Cologne
8 VIB11 - Department of Molecular and Developmental Genetics
9 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
10 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
11 Medical Genetics Laboratory
12 UGA UFRM - Université Grenoble Alpes - UFR Médecine
13 Laboratory of Pharmaceutical Biology, Faculty of Pharmaceutical Sciences Lueven Belgium
14 CEGAT - Center for Genomics and Transcriptomics
15 UZA - Antwerp University Hospital [Edegem]
16 CHOP - Children’s Hospital of Philadelphia
17 Cologne Center for Genomics

Domaines: Médecine humaine et pathologie; Génétique; Neurobiologie

Julian Schubert, Aleksandra Siekierska, Mélanie Langlois, Patrick May, Clément Huneau, et al.. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genetics, 2014, 46 (12), pp.1327 - 1332. ⟨10.1038/ng.3130⟩. ⟨hal-01615594⟩