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

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

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Veröffentlicht in:	Journal of medical genetics 2017-07, Vol.54 (7), p.460-470
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Brain Diseases - drug therapy Brain Diseases - genetics Consortia Cortex Encephalopathy Epilepsy Genetics Heterozygote Humans Intellectual disabilities Life Sciences Ligands Magnetic Resonance Imaging Memantine Memantine - therapeutic use Molecular Targeted Therapy Movement disorders Mutation Mutation - genetics Neurodevelopmental disorders Neuroimaging Phenotype Polymicrogyria Precision medicine Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors Receptors, N-Methyl-D-Aspartate - genetics Receptors, N-Methyl-D-Aspartate - metabolism Schizophrenia Visual perception
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