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

Journal of Medical Genetics

Volumn 54, Issue 7, 2017, Pages 460-470

  Platzer, Konrad ^a   Yuan, Hongjie ^b   Schütz, Hannah ^c   Winschel, Alexander ^c   Chen, Wenjuan ^b   Hu, Chun ^b   Kusumoto, Hirofumi ^b   Heyne, Henrike O ^a   Helbig, Katherine L ^d   Tang, Sha ^d   Willing, Marcia C ^e   Tinkle, Brad T ^f   Adams, Darius J ^g   Depienne, Christel ^h,i,j,k   Keren, Boris ^h,i   Mignot, Cyril ⁱ   Frengen, Eirik ^l   Strømme, Petter ^l   Biskup, Saskia ^m   Döcker, Dennis ^m   Strom, Tim M ⁿ   Mefford, Heather C ^o   Myers, Candace T ^o   Muir, Alison M ^o   LaCroix, Amy ^o   Sadleir, Lynette ^p   Scheffer, Ingrid E ^q   Brilstra, Eva ^r   van Haelst, Mieke M ^r   van der Smagt, Jasper J ^r   Bok, Levinus A ^s   Møller, Rikke S ^t,u   Jensen, Uffe B ^v   Millichap, John J ^w   Berg, Anne T ^w   Goldberg, Ethan M ^x,y   De Bie, Isabelle ^z   Fox, Stephanie ^z   Major, Philippe ^aa   Jones, Julie R ^ab   Zackai, Elaine H ^ac   Abou Jamra, Rami ^a,ad   Rolfs, Arndt ^ad   Leventer, Richard J ^q,ae   Lawson, John A ^af   Roscioli, Tony ^ag   Jansen, Floor E ^r   Ranza, Emmanuelle ^ah   Korff, Christian M ^ah   Lehesjoki, Anna Elina ^ai   Courage, Carolina ^ai   Linnankivi, Tarja ^aj   Smith, Douglas R ^ak   Stanley, Christine ^ak   Mintz, Mark ^al   McKnight, Dianalee ^am   Decker, Amy ^am   Tan, Wen Hann ^an   Tarnopolsky, Mark A ^ao   Brady, Lauren I ^ao   Wolff, Markus ^ap   Dondit, Lutz ^aq   Pedro, Helio F ^ar   Parisotto, Sarah E ^ar   Jones, Kelly L ^as   Patel, Anup D ^at,au   Franz, David N ^av   Vanzo, Rena ^aw   Marco, Elysa ^ax   Ranells, Judith D ^ay   Di Donato, Nataliya ^az   Dobyns, William B ^o,ba,bb   Laube, Bodo ^c   Traynelis, Stephen F ^b   Lemke, Johannes R ^a   more..

^a UNIVERSITY OF LEIPZIG   (Germany)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c DARMSTADT UNIVERSITY OF TECHNOLOGY   (Germany)

^d AMBRY GENETICS   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ADVOCATE CHILDREN S HOSPITAL   (United States)

^g Atlantic Health   (United States)

^h SORBONNE UNIVERSITÉ   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j UNIVERSITÉ DE STRASBOURG   (France)

^k UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^l OSLO UNIVERSITY HOSPITAL   (Norway)

^m CEGAT GMBH   (Germany)

ⁿ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^o UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^p UNIVERSITY OF OTAGO   (New Zealand)

^q UNIVERSITY OF MELBOURNE   (Australia)

^r UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^s MÁXIMA MEDICAL CENTER   (Netherlands)

^t DANISH EPILEPSY CENTRE   (Denmark)

^u UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^v AARHUS UNIVERSITY HOSPITAL   (Denmark)

^w NORTHWESTERN UNIVERSITY   (United States)

^x UNIVERSITY OF PENNSYLVANIA   (United States)

^y UNIVERSITY OF PENNSYLVANIA   (United States)

^z MONTREAL CHILDREN S HOSPITAL   (Canada)

^aa UNIVERSITY OF MONTREAL   (Canada)

^ab GREENWOOD GENETIC CENTER   (United States)

^ac CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^ad CENTOGENE AG   (Germany)

^ae ROYAL CHILDREN'S HOSPITAL   (Australia)

^af SYDNEY CHILDREN'S HOSPITAL   (Australia)

^ag Genome One   (Australia)

^ah GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^ai UNIVERSITY OF HELSINKI   (Finland)

^aj UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^ak University of Helsinki ^*  (United States)

^al Clinical Research Center of New Jersey   (United States)

^am GENEDX   (United States)

^an BOSTON CHILDREN S HOSPITAL   (United States)

^ao MCMASTER UNIVERSITY   (Canada)

^ap UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^aq OLGAHOSPITAL   (Germany)

^ar HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^as UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^at NATIONWIDE CHILDREN S HOSPITAL   (United States)

^au THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^av CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^aw Lineagen Inc   (United States)

^ax UNIVERSITY OF CALIFORNIA   (United States)

^ay UNIVERSITY OF SOUTH FLORIDA   (United States)

^az DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^ba SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^bb UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

Channelopathy; Clustering of missense variants; Epileptic encephalopathy; Pathogenic GRIN2B mutations; Precision medicine

Indexed keywords

ANTICONVULSIVE AGENT; GLUTAMIC ACID; GLYCINE; MEMANTINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; PROTON; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NR2B NMDA RECEPTOR;

ANTICONVULSANT THERAPY; ARTICLE; BINDING SITE; BRAIN DISEASE; CLINICAL ARTICLE; COMBINATION DRUG THERAPY; FOCAL EPILEPSY; FOLLOW UP; GAIN OF FUNCTION MUTATION; GENE CLUSTER; GENE FREQUENCY; GENETIC VARIABILITY; GRIN2B ENCEPHALOPATHY; HUMAN; HYPSARRHYTHMIA; LIGAND BINDING; MICROGYRIA; MONOZYGOTIC TWINS; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PERSONALIZED MEDICINE; PH; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; TREATMENT RESPONSE; ANTAGONISTS AND INHIBITORS; GENETICS; HETEROZYGOTE; METABOLISM; MOLECULARLY TARGETED THERAPY; MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING;

BRAIN DISEASES; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MEMANTINE; MOLECULAR TARGETED THERAPY; MUTATION; NEUROIMAGING; PHENOTYPE; RECEPTORS, N-METHYL-D-ASPARTATE;

EID: 85021154784     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104509     Document Type: Article

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