title: Two patients with a GRIN2A mutation and childhood-onset epilepsy.
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).
  
  
  METHODS
  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.
authors.affiliation: Division of Pediatric Neurology, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio.
authors.forename: Seth P
authors.initials: SP
authors.lastname: DeVries
authors.forename: Anup D
authors.initials: AD
authors.lastname: Patel
mesh_terms: D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
chemical_list: D016194:Receptors, N-Methyl-D-Aspartate
keywords: GRIN2A; NMDA; epilepsy; receptors