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Pediatr Neurol. 2013 Dec;49(6):482-5. doi: 10.1016/j.pediatrneurol.2013.08.023. Epub 2013 Oct 11.

Two patients with a GRIN2A mutation and childhood-onset epilepsy.

Author information

  • 1Division of Pediatric Neurology, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio.

Abstract

BACKGROUND:

N-methyl-D-aspartate is a key neurotransmitter within the central nervous system and its dysfunction can play an important role in epilepsy. Mutations of genes involving the N-methyl-D-aspartate receptor have been implicated in a wide variety of neuropsychiatric disorders including epilepsy, specifically, within the glutamate receptor ionotropic N-methyl-D-aspartate 2A (GRIN2A).

PATIENTS:

We report two patients with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation who presented with epilepsy.

CONCLUSIONS:

Individuals with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation exhibit a broad clinical spectrum.

Copyright © 2013 Elsevier Inc. All rights reserved.

KEYWORDS:

GRIN2A; NMDA; epilepsy; receptors

PMID:
24125812
[PubMed - indexed for MEDLINE]
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