Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variants

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Epilepsia - ISSN 0013-9580- (2026) p.
Auteur(s)
    Cathrine E. Gjerulfsen, Vivian W.Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Moller

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

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The American journal of human genetics - ISSN 0002-9297-113:3 (2026) p. 600-615
Auteur(s)
    Valentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, Maryline Lecointre, Concetta Mazzotta, Florent Marguet, Anna Garbelli, Pascale Marcorelles, Ludovica Celli, Alice Goldenberg, Roberta De Mori, Nathalie Drouot, Francesco Petrizzelli, François Janin, Gaël Nicolas, Noor Smal, Claudia Condoluci, Carla Marini, Frederic Tran-Mau-Them, Valentin Ruault, Alessia Micalizzi, Silvia Bione, Tommaso Mazza, Anna Pichiecchio, Monia Ginevrino, Sarah Weckhuysen, Alice Bedois, Béatrice Desnous, Laurent Hermitte, Grace Rabie, Moien Kanaan, Bruno J. Gonzalez, Simone Sabbioneda, Annie Laquerrière, Pascale Saugier-Veber, Enza Maria Valente

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Bron
Epilepsia - ISSN 0013-9580-67:4 (2026) p. 1945-1960
Auteur(s)
    Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El-kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Hojte, Stephane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke-Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al-Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson-Lyver, Ira Benkel-Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P.J. Braun, Anne-marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Rikke S. Moller