Skip to Main Content

Paper Details

De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
Cold Spring Harb Mol Case Stud
2
2022
AMPA, AMPA receptor, ENST00000264426, GRIA2, GRIA2 gene, autism spectrum disorder, autosomal dominant neurodevelopmental disorder, behavioral abnormalities, c.1589A, developmental delay, dominant neurodevelopmental disorder, early infantile epileptic encephalopathies, epileptic encephalopathy, global developmental delay, gnomAD, intellectual disability, language impairments, patient, seizures
Author NameAffiliation
Daniel C KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital .
Robert WilliamsonSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital.
Adam P OstendorfDivision of Child Neurology at Nationwide Children's Hospital.
Kristy LeeSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital.
Richard K WilsonSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital.
Richard K WilsonSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital.
  • 1 - 6

Datasets

Release 1.2