Neurodevelopmental disorder due to a frameshift mutation in the <i>GRIN2A</i> gene: a case report.

ABSTRACT:

Background

Pathogenic variants in GRIN2A, encoding the GluN2A subunit of the N-methyl-D-aspartate receptor (NMDAR), are increasingly recognized as causes of neurodevelopmental disorders, particularly within the epilepsy-aphasia spectrum. However, presentations without clinical seizures-especially those initially manifesting as isolated ataxia-are rarely reported. We describe a previously unreported GRIN2A frameshift variant associated with early-onset ataxia, delayed-onset electrographic abnormalities, and favorable response to immunotherapy.

Case description

A 23-month-old boy presented with subacute gait ataxia following a viral illness. Neuroimaging, cerebrospinal fluid analysis, and an extensive autoimmune panel were unremarkable. Initial immunotherapy with

SUBMITTER: Xu C 

PROVIDER: S-EPMC12268631 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature