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The landscape of epilepsy-related GATOR1 variants

ContributorsBaldassari, 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 Jr; 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; Baulac, Stéphanie
TranslatorsMøller, Rikke S
Published inGenetics in Medicine, vol. 21, no. 2, p. 398-408
Errata
Errata
Publication date2019
Abstract

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.

Citation (ISO format)
BALDASSARI, Sara et al. The landscape of epilepsy-related GATOR1 variants. In: Genetics in Medicine, 2019, vol. 21, n° 2, p. 398–408. doi: 10.1038/s41436-018-0060-2
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Journal ISSN1098-3600
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