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

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

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Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
Auteur(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