A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.

ABSTRACT:

Background

Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have not been associated with a nonepileptic neurodevelopmental disorder with dystonia.

Objectives

The objective of this study was to identify the disease-causing gene in 2 siblings with neurodevelopmental and movement disorders with no epileptiform abnormalities.

Methods

The study method was targeted next-generation sequencing panel for neuropediatric disorders and subsequent ele

SUBMITTER: Fernandez-Marmiesse A 

PROVIDER: S-EPMC6105539 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature