Sarah Weckhuysen associate professor - fund. clinical researcher

Publications Sarah Weckhuysen

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants : a retrospective cohort study

Source
Epilepsia - ISSN 0013-9580- (2025) p.
Author(s)
    Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Smigiel, Stephane Auvin, Kern Olofson, Cathrine Elisabeth Gjerulfsen, Berten Ceulemans, Rikke S. Moller, Allan Bayat, Sarah Weckhuysen

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

Source
JCI Insight - ISSN 2379-3708- (2025) p. 1-38
Author(s)

Early mortality in STXBP1-related disorders

Source
Neurological sciences - ISSN 1590-1874-46:3 (2025) p. 1339-1347
Author(s)
    Francesca Furia, Charlene Son Rigby, Ingrid E. Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Ganna Balagura, Bruria Benzeev, Hilgo Bruining, Alejandra Darling, Francesca Furia, Ángeles García Cazorla, Misra-Isrie Mala, Mathieu Milh, Rikke Steensbjerre Møller, Hannah Stamberger, Pasquale Striano, Steffen Syrbe, Kim Marie Thalwitzer, Matthijs Verhage, Sarah Weckhuysen, Guido Rubboli, Rikke S. Møller, Elena Gardella

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Source
Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
Author(s)
    German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E.L.M. Vissers, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Marc Sturm, Joohyun Park, Leon Schütz, Julia M. Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Melanie Kellner, Baptist Resch, Ingrid Kolen, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Danique Beijer, Peter Heutink, Ludger Schöls, Holger Hengel, Holger Lerche, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Hannah Stamberger, Charissa Millevert, Noor Smal, Steven Laurie