Article
The landscape of epilepsy-related GATOR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019
Baldassari Sara, Picard Fabienne, Verbeek Nienke E, van Kempen Marjan, Brilstra Eva H, Lesca Gaetan, Conti Valerio, Guerrini Renzo, Bisulli Francesca, Licchetta Laura, Pippucci Tommaso, Tinuper Paolo, Hirsch Edouard, de Saint Martin Anne, Chelly Jamel, Rudolf Gabrielle, Chipaux Mathilde, Ferrand-Sorbets Sarah, Dorfmüller Georg, Sisodiya Sanjay, Balestrini Simona, Schoeler Natasha, Hernandez-Hernandez Laura, Krithika S, Oegema Renske, Hagebeuk Eveline, Gunning Boudewijn, Deckers Charles, Berghuis Bianca, Wegner Ilse, Niks Erik, Jansen Floor E, Braun Kees, de Jong Daniëlle, Rubboli Guido, Talvik Inga, Sander Valentin, Uldall Peter, Jacquemont Marie-Line, Nava Caroline, Leguern Eric, Julia Sophie, Gambardella Antonio, d'Orsi Giuseppe, Crichiutti Giovanni, Faivre Laurence, Darmency Veronique, Benova Barbora, Krsek Pavel, Biraben Arnaud, Lebre Anne-Sophie, Jennesson Mélanie, Sattar Shifteh, Marchal Cécile, Nordli Douglas R, Lindstrom Kristin, Striano Pasquale, Lomax Lysa Boissé, Kiss Courtney, Bartolomei Fabrice, Lepine Anne Fabienne, Schoonjans An-Sofie, Stouffs Katrien, Jansen Anna, Panagiotakaki Eleni, Ricard-Mousnier Brigitte, Thevenon Julien, de Bellescize Julitta, Catenoix Hélène, Dorn Thomas, Zenker Martin, Müller-Schlüter Karen, Brandt Christian, Krey Ilona, Polster Tilman, Wolff Markus, Balci Meral, Rostasy Kevin, Achaz Guillaume, Zacher Pia, Becher Thomas, Cloppenborg Thomas, Yuskaitis Christopher J, Weckhuysen Sarah, Poduri Annapurna, Lemke Johannes R, Møller Rikke S, Baulac Stéphanie
Abstract excerpt
PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants....
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