The genetic and phenotypic spectrum of GABRB1-related disorders

Source
Brain - ISSN 0006-8950
Author(s)
    Charissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, Mahmoud Koko, Maryam Erfanian Omidvar, Ulrike B S Hedrich, Thomas V Wuttke, Nina Barišić, Lieven Lagae, Ángel Aledo-Serrano, Eva-Maria Niehoff, Konrad Platzer, Pia Zacher, Tilman Polster, Robertino Dilena, Edoardo Monfrini, David Geneviève, Agathe Roubertie, Ange-Line Bruel, Frederic Tran Mau-Them, Majed Dasouki, Stacey Cohen, Ingo Helbig, Alicia G Harrison, Ellis Colin, Holly A Dubbs, Eric D Marsh, Sébastien Lebon, Na He, Heng Meng, Mary Chebib, Rikke S Møller, Carla Marini, Philip K Ahring, Holger Lerche, Sarah Weckhuysen

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

Source
JAMA pediatrics - ISSN 2168-6203- (2025) p. 1-10
Author(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

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