GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Nature Genetics

Volumn 45, Issue 9, 2013, Pages 1073-1076

  Carvill, Gemma L ^a   Regan, Brigid M ^b   Yendle, Simone C ^b   O'Roak, Brian J ^c   Lozovaya, Natalia ^d,e,f   Bruneau, Nadine ^d,e,f,g   Burnashev, Nail ^d,e,f,g   Khan, Adiba ^a   Cook, Joseph ^a   Geraghty, Eileen ^a   Sadleir, Lynette G ^h   Turner, Samantha J ^b   Tsai, Meng Han ^b   Webster, Richard ⁱ   Ouvrier, Robert ⁱ   Damiano, John A ^b   Berkovic, Samuel F ^b   Shendure, Jay ^c   Hildebrand, Michael S ^b   Szepetowski, Pierre ^d,e,f,g   Scheffer, Ingrid E ^b,j   Mefford, Heather C ^a   more..

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

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF WASHINGTON   (United States)

^d Turing Center for Living Systems CENTURI Aix Marseille University   (France)

^e INSERM   (France)

^f AIX MARSEILLE UNIVERSITY   (France)

^g French EPILand Network on Epilepsy Language and Development   (France)

^h UNIVERSITY OF OTAGO   (New Zealand)

ⁱ CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^j FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A;

APHASIA; ARTICLE; BENIGN CHILDHOOD EPILEPSY; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA FLANKING REGION; EPILEPSY; EPILEPSY APHASIA SYNDROME; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; ROLANDIC EPILEPSY;

ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; LANDAU-KLEFFNER SYNDROME; MALE; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, N-METHYL-D-ASPARTATE;

EID: 84883446382     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2727     Document Type: Article

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