Zobrazeno 241 - 250
of 553
pro vyhledávání: '"Weckhuysen, Sarah"'
Autor:
Millevert, Charissa1,2 (AUTHOR), Van Hees, Stijn3,4 (AUTHOR), Siewe Fodjo, Joseph Nelson3 (AUTHOR), Wijtvliet, Veerle4 (AUTHOR), Faria de Moura Villela, Edlaine5 (AUTHOR), Rosso, Barbara6 (AUTHOR), Gil-Nagel, Antonio7 (AUTHOR), Weckhuysen, Sarah1,2 (AUTHOR), Colebunders, Robert1,3 (AUTHOR) Robert.colebunders@uantwerpen.be
Publikováno v:
Epilepsy & Behavior. Mar2021, Vol. 116, pN.PAG-N.PAG. 1p.
Autor:
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036
https://hal.archives-ouvertes.fr/hal-02352036
Autor:
Van Hees, Stijn1,2 (AUTHOR), Siewe Fodjo, Joseph Nelson1 (AUTHOR), Wijtvliet, Veerle2 (AUTHOR), Van den Bergh, Rafael1 (AUTHOR), Faria de Moura Villela, Edlaine3 (AUTHOR), da Silva, Carolina Ferreira3 (AUTHOR), Weckhuysen, Sarah4,5 (AUTHOR), Colebunders, Robert1 (AUTHOR) robert.colebunders@uantwerpen.be
Publikováno v:
Epilepsy & Behavior. Nov2020, Vol. 112, pN.PAG-N.PAG. 1p.
Autor:
Edward C. Cooper, Sarah Weckhuysen, Sabine Grønborg, Maurizio Taglialatela, Yong-hui Jiang, Sarah B. Mulkey, John L. Carroll, Phillip L. Pearl, Rebecca C. Spillmann, Maria Roberta Cilio, Silvia Vieker, Kristen Park, Ingrid E. Scheffer, Nishtha Joshi, David A. Koolen, Megan L. Kelly, Bruria Ben-Zeev, Joost Nicolai, Mohamad A. Mikati
Publikováno v:
Epilepsia, 58, 436-445
Epilepsia
Epilepsia, 58(3), 436-445. Wiley
Epilepsia, 58, 3, pp. 436-445
Epilepsia
Epilepsia, 58(3), 436-445. Wiley
Epilepsia, 58, 3, pp. 436-445
Objective: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome.Methods: Ten children with heterozygous, de novo KCNQ2 R201C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::528fec315046e896702ba6f55f2d83b8
http://hdl.handle.net/2066/169763
http://hdl.handle.net/2066/169763
Autor:
Muir, Alison M.1 (AUTHOR), Myers, Candace T.1 (AUTHOR), Nguyen, Nancy T.1 (AUTHOR), Saykally, Julia1 (AUTHOR), Craiu, Dana2,3 (AUTHOR), De Jonghe, Peter4,5,6 (AUTHOR), Helbig, Ingo7,8 (AUTHOR), Hoffman-Zacharska, Dorota9,10 (AUTHOR), Guerrini, Renzo11 (AUTHOR), Lehesjoki, Anna-Elina12 (AUTHOR), Marini, Carla11 (AUTHOR), Møller, Rikke S.13,14 (AUTHOR), Serratosa, Jose15 (AUTHOR), Štěrbová, Katalin16 (AUTHOR), Striano, Pasquale17,18 (AUTHOR), von Spiczak, Sarah8,19 (AUTHOR), Weckhuysen, Sarah4,5,6 (AUTHOR), Mefford, Heather C.1 (AUTHOR) hmefford@uw.edu
Publikováno v:
Epilepsy Research. Oct2019, Vol. 156, pN.PAG-N.PAG. 1p.
Autor:
Møller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Rückert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., Zimprich, F., Mörzinger, M., Feucht, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Jordanova, A., Kjelgaard, D.B., Lehesjoki, A.E., Siren, A., Baulac, S., Leguern, E., Von Spiczak, S., Ostertag, P., Leber, M., Leu, C., Toliat, M.R., Nürnberg, P., Hempelmann, A., Rüschendorf, F., Elger, C.E., Kleefuß Lie, A.A., Surges, R., Gaus, V., Janz, D., Schmitz, B., Klein, K.M., Reif, P.S., Oertel, W.H., Hamer, H.M., Rosenow, F., Becker, F., Marini, C., Guerrini, R., Mei, D., Norci, V., Zara, F., Striano, P., Robbiano, A., Pezzella, M., Bianchi, A., Gambardella, A., Tinuper, P., La Neve, A., Capovilla, G., Vigliano, P., Crichiutti, G., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Giallonardo, M.T., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., Koeleman, B.P.C., De Kovel, C., Lindhout, D., De Haan, G.J., Ozbeck, U., Bebek, N., Baykan, B., Ozdemir, O., Ugur, S., Kocasoy Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Yapici, Z., Ozkara, C., Caglayan, H., Yalcin, O., Yalcin, D., Turkdogan, D., Dizdarer, G., Agan, K.
Publikováno v:
Epilepsia
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Møller, R S, YG, W, Klitten, L L, H, T, H, M, WS, K, HC, M, A, F, M, K, P, W, D, D, S, S, IM, R, HE, W, JP, E, C, S, HJ, G, N, T, U, S, H, L, Hjalgrim, H, I, H & T, S 2013, ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ', Epilepsia, vol. 54, no. 2, pp. 256-264 . https://doi.org/10.1111/epi.12078
Epilepsia 54, 256-264 (2013)
Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletion
Autor:
Steffen Syrbe, Elena Gardella, Sarah E. Heron, Thomas Bast, Rikke S. Møller, Yvonne G. Weber, Hans Eiberg, Johannes R. Lemke, Peter Nürnberg, Pia Gellert, Leanne M. Dibbens, Holger Lerche, Sándor Beniczky, Hans Atli Dahl, Sarah Weckhuysen, Bernhard J. Steinhoff, Felicitas Becker, Helle Hjalgrim
Publikováno v:
Annals of neurology. 80(1)
Autor:
Alison L. Clarke, Jay Shendure, Eileen Geraghty, Samuel F. Berkovic, Brian J. O'Roak, Gemma L. Carvill, Steven Petrou, Heather C Mefford, Ingo Helbig, Sarah Weckhuysen, Elena V. Gazina, Marina Nikanorova, Arvid Suls, Hiltrud Muhle, Rikke S. Møller, Bree L. Hodgson, Sarah von Spiczak, Ingrid E. Scheffer, Helle Hjalgrim, Deepak Gill, Corinna Hartmann, Leanne M. Dibbens, Lynette G. Sadleir, Joseph Cook, Jacinta M McMahon, Peter De Jonghe
Publikováno v:
Neurology
Objective: To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing. Methods: We performed whole-exome sequencing in 13 SCN1A -negative patients with Dravet syndrome and targeted resequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc342d6d6222553d83d4432a0d80dce2
https://hdl.handle.net/1959.8/158742
https://hdl.handle.net/1959.8/158742
Autor:
Paul M. Levisohn, Tammy Tsuchida, John Millichap, Brenda E. Porter, Eric D. Marsh, Lionel Carmant, Srishti Nangia, Emily L. McGinnis, Molly Tracy, Sarah Weckhuysen, Marc C. Patterson, Robert Flamini, Baouyen Tran, Keri Ramsey, Bruria Ben-Zeev, Charu Venkatesan, Vinodh Narayanan, Kristen Park, Nishtha Joshi, Edward C. Cooper, Xilma R. Ortiz-Gonzalez, Maurizio Taglialatela, Phillip L. Pearl
Publikováno v:
Neurology : Genetics
Neurology: Genetics
Neurology: Genetics
Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. Methods: We retrospectively studied 23 patients with KCN