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Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor enc...

Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel

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 mut...

Date: 2016   |   Origin: Sapientia - Universidade do Algarve
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