GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

American Journal of Human Genetics

Volumn 99, Issue 4, 2016, Pages 802-816

  Li, Dong ^a   Yuan, Hongjie ^b   Ortiz Gonzalez, Xilma R ^a,c   Marsh, Eric D ^a,c   Tian, Lifeng ^a   McCormick, Elizabeth M ^a   Kosobucki, Gabrielle J ^d   Chen, Wenjuan ^b   Schulien, Anthony J ^d   Chiavacci, Rosetta ^a   Tankovic, Anel ^b   Naase, Claudia ^e   Brueckner, Frieder ^f   von Stülpnagel Steinbeis, Celina ^g,h   Hu, Chun ^b   Kusumoto, Hirofumi ^b   Hedrich, Ulrike B S ⁱ   Elsen, Gina ⁱ   Hörtnagel, Konstanze ^j   Aizenman, Elias ^d   Lemke, Johannes R ^k   Hakonarson, Hakon ^a,c   Traynelis, Stephen F ^b   Falk, Marni J ^a,c   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e INSTITUTE OF PATHOLOGY   (Germany)

^f Institute for Neuropediatrics and Social Pediatrics Hamburg East   (Germany)

^g Hospital for Neuropediatrics and Neurological Rehabilitation   (Germany)

^h PARACELSUS MEDICAL UNIVERSITY   (Austria)

ⁱ UNIVERSITY OF TÜBINGEN   (Germany)

^j CEGAT GMBH   (Germany)

^k UNIVERSITY OF LEIPZIG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMANTADINE; COMPLEMENTARY DNA; DEXTROMETHORPHAN; DEXTRORPHAN; ISOLEUCINE; KETAMINE; LAMOTRIGINE; MAGNESIUM SULFATE; MEMANTINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2D; N METHYL DEXTRO ASPARTIC ACID RECEPTOR BLOCKING AGENT; PROTON; SULTIAME; VALINE; GLUTAMIC ACID; GRIN2D PROTEIN, HUMAN; MAGNESIUM; N METHYL DEXTRO ASPARTIC ACID RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHANNEL GATING; CHILD; DISEASE SEVERITY; DRUG DOSE ESCALATION; DRUG DOSE TITRATION; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC STATE; EXCITOTOXICITY; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GRIN2D GENE; HETEROZYGOSITY; HUMAN; INFANT; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE CELL NECROSIS; PRIORITY JOURNAL; RECEPTOR SENSITIVITY; SCHOOL CHILD; SWELLING; AMINO ACID SEQUENCE; ANTAGONISTS AND INHIBITORS; CELL DEATH; CHEMISTRY; DENDRITE; DNA MUTATIONAL ANALYSIS; DOMINANT GENE; ELECTROENCEPHALOGRAPHY; GENETICS; METABOLISM; MOLECULAR MODEL; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PERSONALIZED MEDICINE; SEIZURES; SPASMS, INFANTILE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL DEATH; CHILD; DENDRITES; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; GENES, DOMINANT; GLUTAMIC ACID; HUMANS; INFANT; INFANT, NEWBORN; KETAMINE; MAGNESIUM; MEMANTINE; MODELS, MOLECULAR; MUTATION; PRECISION MEDICINE; RECEPTORS, N-METHYL-D-ASPARTATE; SEIZURES; SPASMS, INFANTILE;

EID: 84991716140     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.07.013     Document Type: Article

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