<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, Konrad; Yuan, Hongjie; M. Schutz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike; L. Helbig, Katherine; Tang, Sha; Willing, Marcia; T. Tinkle, Brad; J. Adams, Darius; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; M. Strom, Tim; C. Mefford, Heather; T. Myers, Candace; M. Muir, Alison; Lacroix, Amy; G. Sadleir, Lynette; E. Scheffer, Ingrid; H. Brilstra, Eva; M. van Haelst, Mieke; J. van der Smagt, Jasper; A. Bok, Levinus; S. Møller, Rikke; Birk Jensen, Uffe; Gordon Millichap, J; T. Berg, Anne; M. Goldberg, Ethan; De Bie, Isabelle; Fox, Stéphanie; Major, Philippe; R. Jones, Julie; H. Zackai, Elaine; Abou Jamra, Rami; Rolfs, Arndt; J. Leventer, Richard; A. Lawson, John; Roscioli, Tony; E. Jansen, Floor; Ranza, Emmanuelle; Korff, Christian; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; R Smith, Douglas; M. Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen‐Hann; A. Tarnopolsky, Mark; Brady, Lauren; Wolff, Markus; Dondit, Lutz; Pedro, Hélio; Parisotto, Sarah; L. Jones, Kelly; D. Patel, Anup; Neal Franz, David; Vanzo, Rena; Marco, Elysa; D. Ranells, Judith; Di Donato, Nataliya; B. Dobyns, William; Laube, Bodo; F. Traynelis, Stephen; R. Lemke, Johannes

doi:10.1136/jmedgenet-2016-104509

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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Published in Journal of Medical Genetics • Apr 4, 2017

Authors:

Konrad Platzer

Hongjie Yuan

Hannah M. Schutz

Abstract

BACKGROUND: encephalopathy and explored potential prospects of personalised medicine. METHODS: variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro...

Subject

Phenotype

Biology

Computational biology

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