Article
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Neurology - 7 Jun 2016
Lemke Johannes R, Geider Kirsten, Helbig Katherine L, Heyne Henrike O, Schütz Hannah, Hentschel Julia, Courage Carolina, Depienne Christel, Nava Caroline, Heron Delphine, Møller Rikke S, Hjalgrim Helle, Lal Dennis, Neubauer Bernd A, Nürnberg Peter, Thiele Holger, Kurlemann Gerhard, Arnold Georgianne L, Bhambhani Vikas, Bartholdi Deborah, Pedurupillay Christeen Ramane J, Misceo Doriana, Frengen Eirik, Strømme Petter, Dlugos Dennis J, Doherty Emily S, Bijlsma Emilia K, Ruivenkamp Claudia A, Hoffer Mariette J V, Goldstein Amy, Rajan Deepa S, Narayanan Vinodh, Ramsey Keri, Belnap Newell, Schrauwen Isabelle, Richholt Ryan, Koeleman Bobby P C, Sá Joaquim, Mendonça Carla, de Kovel Carolien G F, Weckhuysen Sarah, Hardies Katia, De Jonghe Peter, De Meirleir Linda, Milh Mathieu, Badens Catherine, Lebrun Marine, Busa Tiffany, Francannet Christine, Piton Amélie, Riesch Erik, Biskup Saskia, Vogt Heinrich, Dorn Thomas, Helbig Ingo, Michaud Jacques L, Laube Bodo, Syrbe Steffen
Abstract excerpt
OBJECTIVE: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS: We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes. RESULTS: We identified heterozygous de novo GRIN1...
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