Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27


rs879253931 in GRIN2B gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27572814 2016 Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

rs672601378 in GRIN2B;LOC105369668 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24272827 2014 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

rs672601376 in LOC105369668;GRIN2B gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24272827 2014 GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.