GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.

• Type of Material: Article
• Authors: Wenjuan Chen, Emory University; Hongjie Yuan, Emory University
• Language: English
• Date: 2015-06
• Publisher: Pediatric Neurology Briefs Publishers
• Publication Version: Final Published Version
• Copyright Statement: © 2015 The Author(s)
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.15844/pedneurbriefs-29-6-3
• Title of Journal or Parent Work: Pediatric Neurology Briefs
• ISSN: 1043-3155
• Volume: 29
• Issue: 6
• Start Page: 44
• End Page: 44
• Keywords: NDMA receptors; Seizure disorders; GluN1; Neurology; Epilepsy
• Research Categories: Health Sciences, General; Biology, Genetics; Biology, Neuroscience

Abstract

Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.