Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

ATP1A3 variants, variably penetrant short QT intervals, and lethal ventricular arrhythmias

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JAMA pediatrics - ISSN 2168-6203- (2025) p. 1-10
Auteur(s)
    Mary E. Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan, Zhushan Zhang, Jordan E. Ezekian, Robin M. Perelli, Lauren E. Parker, Lyndsey Prange, April Boggs, Jeffrey J. Kim, Taylor S. Howard, Tarah A. Word, Xander H. T. Wehrens, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M. Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T. Papadopoulou, Sébile Tchaicha, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Mirjana Pavlicek, Kevin Ess, Christine Q. Simmons, Alfred L. George, Rosaria Vavassori, Mohamad A. Mikati, Andrew P. Landstrom

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

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Epilepsia - ISSN 0013-9580- (2025) p.
Auteur(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

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

Early mortality in STXBP1-related disorders

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Neurological sciences - ISSN 1590-1874-46:3 (2025) p. 1339-1347
Auteur(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