GRIN1 Mutations in Early-Onset Epileptic Encephalopathy

Wenjuan Chen; Hongjie Yuan

doi:10.15844/pedneurbriefs-29-6-3

GRIN1 Mutations in Early-Onset Epileptic Encephalopathy

Pediatric Neurology Briefs

Volume 29 (2015): Issue 6

By: Wenjuan Chen and Hongjie Yuan

Open Access

|Jun 2015

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.

References

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Yuan H Low CM Moody OA Jenkins A Traynelis SF Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases Mol Pharmacol 2015 88 1 203 17 10.1124/mol.115.097998 25904555
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Yuan H Hansen KB Zhang J Pierson TM Markello TC Fajardo KV Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy Nat Commun 2014 5 3251 10.1038/ncomms4251 24504326
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Pierson TM Yuan H Marsh ED Fuentes-Fajardo K Adams DR Markello T mutation and early-onset epileptic encephalopathy: personalized therapy with memantine Ann Clin Transl Neurol 2014 1 3 190 8 10.1002/acn3.39 24839611
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-29-6-3 | Journal eISSN: 2166-6482

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Language: English

Page range: 44 - 44

Submitted on: Jun 19, 2015

Accepted on: Jun 27, 2015

Published on: Jun 30, 2015

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

NDMA receptors,

GluN1,

Epilepsy

© 2015 Wenjuan Chen, Hongjie Yuan, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 29 (2015): Issue 6