Lessons learned from 40 novel PIGA patients and a review of the literature

Autor: Martin R. Larsen, Shiva Ganesan, Tobias Brünger, Nicolas Chassaing, Caroline Nava, Renzo Guerrini, Kim L. McBride, Anneke Kievit, Elena Parrini, Dennis Lal, Lisbeth Tranebjærg, Christel Depienne, Aleksandra Jezela-Stanek, Matthew Pastore, Carolina Fischinger Moura de Souza, Berten Ceulemans, Hannah Moore, Peter Krawitz, Gaetan Lesca, Ingo Helbig, Valerie Layet, Friedrich Bosch, Alexandra Afenjar, Rikke S. Møller, Carlos Ferreira, Sophie Naudion, Milda Endziniene, Alexej Knaus, Lilian Bomme Ousager, Marie-Christine Nougues, Caroline Karsenty, Johanne Kragh Hansen, Allan Bayat, Elena Gardella, Anne-Marie Guerrot, Marije Meuwissen, Tahsin Stefan Barakat, Mads Thomassen, Patrick Calvas, F Kooy, Jurgen H Schelhaas, Svetlana Gataullina, Lynne A. Wolfe, Bert Callewaert, Ashley Thomas, Steven A. Skinner, Lars Hansen, Manuela Pendziwiat, Cécile Freihuber, Cyril Mignot, Krzysztoł Szczałuba, Marjon van Slegtenhorst, Martino Montomoli, Christian Korff

Publikováno v: Epilepsia
Epilepsia, 61(6), 1142-1155. Wiley-Blackwell Publishing Ltd
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545

OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.METHODS: Our cohort encompasses 40 affected males

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba27e2d50f92ed752b1a8fec4f4989b
https://doi.org/10.1111/epi.16545

Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial

Autor: Tilman Polster, Joerg Klepper, Marion Traus, Thomas Bast, Hartmut Koch, Florian Heinen, Andreas Fiedler, Dietz Rating, Rudolf Korinthenberg, Martina Baethmann, Harald Bode, Moritz Tacke, Christiane Hikel, Joachim Opp, Soeren Heß, Hildegard Wendker-Magrabi, Gerhard Kluger, Hedwig Freitag, Katharina Vill, Elisabeth Tuschen-Hofstätter, Zeecam Hoovey, Peter Dahlem, Hiltrud Muhle, Evemarie Feldmann, Gabriele Weber, Johann Penzien, Hans-Georg Hoffmann, Gerhard Kurlemann, Peter Navratil, Walter Koch, Hans-Michael Straßburg, Friedrich Bosch, Mohammed Ghiath Shamdeen, Ulrich Brandl, Stephan Waltz, Markus Wolff, Bärbel Töpke, Ilona Krois, Klaus Reinhardt, Jan-Peter Ernst, Axel Quattländer, Matthias Kieslich, Michaela Bonfert, Hermann Kühne, Harald M Blank, Michael Gerigk, Christian Blank, Ingo Borggraefe, Ulrich Stephani, K. Brockmann, Ulrike Schara, Frank U Wien, Bernd A. Neubauer, Friedrich A. M. Baumeister, Lucia Gerstl, Ötzcam Sönmez, Ulrike Mause, Regina Trollmann, Michaela Mandl, Viola Prietsch, Karl Bentele, Andreas Sprinz

Publikováno v: Seizure. 56

Purpose BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG. Methods In a randomized controlled trial including 43 chil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f883fbf52e93e9d0028fa8eb88c452
https://pubmed.ncbi.nlm.nih.gov/29475094

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Autor: Katja, Grohmann, Raymonda, Varon, Piroschka, Stolz, Markus, Schuelke, Catrin, Janetzki, Enrico, Bertini, Kate, Bushby, Francesco, Muntoni, Robert, Ouvrier, Lionel, Van Maldergem, Nathalie M L A, Goemans, Hanns, Lochmüller, Stephan, Eichholz, Coleen, Adams, Friedrich, Bosch, Padraic, Grattan-Smith, Carmen, Navarro, Heidemarie, Neitzel, Tilman, Polster, Haluk, Topaloğlu, Christina, Steglich, Ulf P, Guenther, Klaus, Zerres, Sabine, Rudnik-Schöneborn, Christoph, Hübner

Publikováno v: Annals of neurology. 54(6)

Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f0092918a16378bb2fbe38cb0c5805c
https://pubmed.ncbi.nlm.nih.gov/14681881