Article

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

Journal of medical genetics - 1 Jul 2017

Platzer Konrad, Yuan Hongjie, Schütz 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, Strømme Petter, Biskup Saskia, Döcker Dennis, Strom Tim M, Mefford Heather C, Myers Candace T, Muir Alison M, LaCroix Amy, Sadleir Lynette, Scheffer Ingrid E, Brilstra Eva, van Haelst Mieke M, van der Smagt Jasper J, Bok Levinus A, Møller Rikke S, Jensen Uffe B, Millichap John J, Berg Anne T, Goldberg Ethan M, De Bie Isabelle, Fox Stephanie, Major Philippe, Jones Julie R, Zackai Elaine H, Abou Jamra Rami, 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, Di Donato Nataliya, Dobyns William B, Laube Bodo, Traynelis Stephen F, Lemke Johannes R