Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

ABSTRACT:

Objective

To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.

Methods

We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes.

Results

We identified heterozygous de novo GRIN1 mutations in 14 individuals and reviewed the phenotypes of all 9 previously reported patients. These 23 individuals presented with a distinct phenotype of profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, hyperkinetic movement disorder, oculogyric crises, cortical blindness, generalized cerebral atrophy, and epil

SUBMITTER: Lemke JR 

PROVIDER: S-EPMC4898312 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature