Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nils Holert"'
Autor:
Sarah von Spiczak, Sabina Vejzovic, Nicolas Chatron, Laurence L Francois, Guido Rubboli, Julitta de Bellescize, Konstantin Mukhin, Holger Lerche, Marielle E M Swinkels, Johannes R. Lemke, Julia Jacobs, Susanne Blichfeldt, Hans Holthausen, Gaetan Lesca, Inga Talvik, Niels Tommerup, Heather C Mefford, Hiltrud Muhle, Tiina Talvik, Cornelia Betzler, Holly Dubbs, Line H.G. Larsen, Gerhard Kluger, Candace T. Myers, Renzo Guerrini, Steffen Syrbe, Yuan Mang, Marina Nikanorova, Sarah Hopkins, Ingo Helbig, Katrine M Johannesen, Snezana Maljevic, Ingo Borggraefe, Thomas V. Wuttke, Manuela Pendziwiat, Nils Holert, Hans Atli Dahl, Koen L.I. van Gassen, Rikke S. Møller, Carla Marini, Ulvi Vaher, Eva H. Brilstra
Publikováno v:
Møller, R S, Wuttke, T V, Helbig, I, Marini, C, Johannesen, K M, Brilstra, E H, Vaher, U, Borggraefe, I, Talvik, I, Talvik, T, Kluger, G, Francois, L L, Lesca, G, de Bellescize, J, Blichfeldt, S, Chatron, N, Holert, N, Jacobs, J, Swinkels, M E M, Betzler, C, Syrbe, S, Nikanorova, M, Myers, C T, Larsen, L H G, Vejzovic, S, Pendziwiat, M, von Spiczak, S, Hopkins, S, Dubbs, H, Mang, Y, Mukhin, K, Holthausen, H, van Gassen, K L, Dahl, H A, Tommerup, N, Mefford, H C, Rubboli, G, Guerrini, R, Lemke, J R, Lerche, H, Muhle, H & Maljevic, S 2017, ' Mutations in GABRB3 : From febrile seizures to epileptic encephalopathies ', Neurology, vol. 88, no. 5, pp. 483-492 . https://doi.org/10.1212/WNL.0000000000003565
Objective:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.Meth
Publikováno v:
Journal of Epilepsy. 11:355-360
Oxcarbazepine (OCBZ) is one of the new antiepileptic drugs (AEDs) currently available in several countries. While it is rated as having fewer side effects than carbamazepine (CBZ) there has been a paucity of studies in children. We retrospectively re
Autor:
Elisabeth Korn-Merker, Bernhard Rambeck, Thomas Mayer, Christian Brandt, Nils Holert, Theodor W. May, Rainer Boor, Uwe Jürgens
Publikováno v:
Therapeutic drug monitoring. 34(4)
Stiripentol (STP) was approved as an orphan drug in 2007 in Europe as adjunctive therapy with valproic acid (VPA) and clobazam (CLB) for Dravet syndrome. Dravet syndrome is a highly pharmacoresistant form of epilepsy, which starts in early childhood.
Publikováno v:
Epilepsy research. 30(3)
We report the case of a 12-year-old girl with severe clinically relevant hyponatremia (118 mmol/l) and hypochloremia (81 mmol/l) during treatment with oxcarbazepine (OCBZ). The adverse effects were rapidly reversible after discontinuation of OCBZ and