Delineating the GRIN 1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

@inproceedings{LemkeDelineatingTG,
  title={Delineating the GRIN 1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy},
  author={Johannes R Lemke and Kirsten Geider and Katherine L Helbig and Henrike O. Heyne and Hannah Sch{\"u}tz and Julia Hentschel and Carolina Courage and Christel Depienne and Caroline Nava and D{\'e}lphine Heron and Rikke Steensbjerre M\oller and Helle Hjalgrim and Dennis Lal and Bernd Axel Neubauer and Peter N{\"u}rnberg and Holger Thiele and Gerhard Kurlemann and Georgianne L. Arnold and Vikas Bhambhani and Deborah Bartholdi and Doriana Misceo and Eirik Frengen and Petter Str\omme and Dennis J. Dlugos and Emily S. Doherty and Emilia K. Bijlsma and Claudia A. L. Ruivenkamp and Mariette J. V. Hoffer and Amy Goldstein and D. Sundaraa Rajan and Vinodh Narayanan}
}
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… CONTINUE READING