Two patients with a GRIN2A mutation and childhood-onset epilepsy - PubMed (original) (raw)
Case Reports
Two patients with a GRIN2A mutation and childhood-onset epilepsy
Seth P DeVries et al. Pediatr Neurol. 2013 Dec.
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.
Keywords: GRIN2A; NMDA; epilepsy; receptors.
Copyright © 2013 Elsevier Inc. All rights reserved.
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