Seth P DeVries1, Anup D Patel. 1. Division 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.
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.
Authors: Sharon A Swanger; Wenjuan Chen; Gordon Wells; Pieter B Burger; Anel Tankovic; Subhrajit Bhattacharya; Katie L Strong; Chun Hu; Hirofumi Kusumoto; Jing Zhang; David R Adams; John J Millichap; Slavé Petrovski; Stephen F Traynelis; Hongjie Yuan Journal: Am J Hum Genet Date: 2016-11-10 Impact factor: 11.025
Authors: Kai Gao; Anel Tankovic; Yujia Zhang; Hirofumi Kusumoto; Jin Zhang; Wenjuan Chen; Wenshu XiangWei; Gil H Shaulsky; Chun Hu; Stephen F Traynelis; Hongjie Yuan; Yuwu Jiang Journal: PLoS One Date: 2017-02-09 Impact factor: 3.240