GRIN1 polymorphisms do not affect susceptibility or phenotype in NMDA receptor encephalitis.

ABSTRACT:

Objective

To determine whether distinct single nucleotide polymorphisms (SNPs) within the glutamate receptor ionotropic NMDA 1 gene (GRIN1) are associated with NMDA receptor (NMDAR) encephalitis and whether these same variants are associated with variability in the clinical presentation and course of affected patients.

Methods

We performed clinical follow-up on 48 patients with NMDAR encephalitis and NMDAR autoantibodies detected in serum or CSF. All RefSeq GRIN1 coding exons were sequenced in 39 Caucasian-European patients, and the frequencies of SNPs were compared with those of an ethnically similar population using a case-control study design. Predetermined clinical variables were compared between patients with and without identified SNPs.

Results

Two SNPs were ide

SUBMITTER: Day GS 

PROVIDER: S-EPMC4582904 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature