학술논문
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Document Type
Report
Author
Platzer, Konrad; Yuan, Hongjie; Schutz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Stromme, Petter; Biskup, Saskia; Docker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; Haelst, Mieke M van; Smagt, Jasper J van der; Bok, Levinus A; Moller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; Bie, Isabelle De; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Jamra, Rami Abou; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Donato, Nataliya Di; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R
Source
Journal of Medical Genetics. July, 2017, Vol. 54 Issue 7
Subject
Language
English
ISSN
0022-2593