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

Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; O Heyne, Henrike; L Helbig, Katherine; Tang, Sha; C 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; Sadleir, Lynette; E Scheffer, Ingrid; Brilstra, Eva; M van Haelst, Mieke; J van der Smagt, Jasper; A Bok, Levinus; S Møller, Rikke; B Jensen, Uffe; J Millichap, John; T Berg, Anne; M Goldberg, Ethan; De Bie, Isabelle; Fox, Stephanie; 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; M Korff, Christian; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; R Smith, Douglas; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; A Tarnopolsky, Mark; I Brady, Lauren; Wolff, Markus; Dondit, Lutz; F Pedro, Helio; E Parisotto, Sarah; L Jones, Kelly; D Patel, Anup; N 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

Shared by NobleBlocks on Apr 4, 2017 • 12:00 AM UTC

Authors:

Konrad Platzer

Hongjie Yuan

Hannah Schütz

Abstract

Background We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Methods Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohort...

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