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Literature DB >> 29124671

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Abstract

Epilepsy is one of the most common neurological diseases. Of all cases, 70%-80% are considered to be due to genetic factors. In recent years, a large number of genes have been identified as being involved in epilepsy. Among them, N-methyl-D-aspartate receptor (NMDAR) subunit-encoding genes represent a large proportion, suggesting an important role for NMDARs in epilepsy. In this review, we summarize and analyze the genotypes, functional alterations, and clinical aspects of NMDAR subunit mutations/variants identified from patients with epilepsy. These data will help to throw light upon the pathogenicity of these NMDAR mutations and advance our understanding of the subtle and complicated role of NMDARs in epilepsy. It will also offer new insights into precision therapy for this disorder.

Entities: Disease Mutation Species

Keywords: Epilepsy; Mutation; NMDA receptors; Subunit

Mesh：

Substances：

Year: 2017 PMID： 29124671 PMCID： PMC5960442 DOI： 10.1007/s12264-017-0191-5

Source DB: PubMed Journal: Neurosci Bull ISSN： 1995-8218 Impact factor: 5.203

74 in total

1. Developmental changes in distribution of NMDA receptor channel subunit mRNAs.

Authors: M Watanabe; Y Inoue; K Sakimura; M Mishina
Journal: Neuroreport Date: 1992-12 Impact factor: 1.837

Review 2. The NMDA receptor complex as a therapeutic target in epilepsy: a review.

Authors: Mehdi Ghasemi; Steven C Schachter
Journal: Epilepsy Behav Date: 2011-11-04 Impact factor: 2.937

3. Structure of the zinc-bound amino-terminal domain of the NMDA receptor NR2B subunit.

Authors: Erkan Karakas; Noriko Simorowski; Hiro Furukawa
Journal: EMBO J Date: 2009-12-16 Impact factor: 11.598

Review 4. GluN2A versus GluN2B: twins, but quite different.

Authors: Xiao-Min Zhang; Jian-Hong Luo
Journal: Neurosci Bull Date: 2013-04-20 Impact factor: 5.203

5. Investigation of GRIN2A in common epilepsy phenotypes.

Authors: Dennis Lal; Sandra Steinbrücker; Julian Schubert; Thomas Sander; Felicitas Becker; Yvonne Weber; Holger Lerche; Holger Thiele; Roland Krause; Anna-Elina Lehesjoki; Peter Nürnberg; Aarno Palotie; Bernd A Neubauer; Hiltrud Muhle; Ulrich Stephani; Ingo Helbig; Albert J Becker; Susanne Schoch; Jörg Hansen; Thomas Dorn; Christin Hohl; Nicole Lüscher; Sarah von Spiczak; Johannes R Lemke
Journal: Epilepsy Res Date: 2015-06-02 Impact factor: 3.045

6. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

Authors: Sarra Dimassi; Audrey Labalme; Gaetan Lesca; Gabrielle Rudolf; Nadine Bruneau; Edouard Hirsch; Alexis Arzimanoglou; Jacques Motte; Anne de Saint Martin; Nadia Boutry-Kryza; Robin Cloarec; Afaf Benitto; Agnès Ameil; Patrick Edery; Philippe Ryvlin; Julitta De Bellescize; Pierre Szepetowski; Damien Sanlaville
Journal: Epilepsia Date: 2013-12-24 Impact factor: 5.864

7. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Authors: Johannes R Lemke; Kirsten Geider; Katherine L Helbig; Henrike O Heyne; Hannah Schütz; Julia Hentschel; Carolina Courage; Christel Depienne; Caroline Nava; Delphine Heron; Rikke S Møller; Helle Hjalgrim; Dennis Lal; Bernd A Neubauer; Peter Nürnberg; Holger Thiele; Gerhard Kurlemann; Georgianne L Arnold; Vikas Bhambhani; Deborah Bartholdi; Christeen Ramane J Pedurupillay; Doriana Misceo; Eirik Frengen; Petter Strømme; Dennis J Dlugos; Emily S Doherty; Emilia K Bijlsma; Claudia A Ruivenkamp; Mariette J V Hoffer; Amy Goldstein; Deepa S Rajan; Vinodh Narayanan; Keri Ramsey; Newell Belnap; Isabelle Schrauwen; Ryan Richholt; Bobby P C Koeleman; Joaquim Sá; Carla Mendonça; Carolien G F de Kovel; Sarah Weckhuysen; Katia Hardies; Peter De Jonghe; Linda De Meirleir; Mathieu Milh; Catherine Badens; Marine Lebrun; Tiffany Busa; Christine Francannet; Amélie Piton; Erik Riesch; Saskia Biskup; Heinrich Vogt; Thomas Dorn; Ingo Helbig; Jacques L Michaud; Bodo Laube; Steffen Syrbe
Journal: Neurology Date: 2016-05-06 Impact factor: 9.910

8. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Authors: J Tarabeux; O Kebir; J Gauthier; F F Hamdan; L Xiong; A Piton; D Spiegelman; É Henrion; B Millet; F Fathalli; R Joober; J L Rapoport; L E DeLisi; É Fombonne; L Mottron; N Forget-Dubois; M Boivin; J L Michaud; P Drapeau; R G Lafrenière; G A Rouleau; M-O Krebs
Journal: Transl Psychiatry Date: 2011-11-15 Impact factor: 6.222

9. De novo mutations in epileptic encephalopathies.

Authors: Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal: Nature Date: 2013-08-11 Impact factor: 49.962

10. GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Authors: Gemma L Carvill; Brigid M Regan; Simone C Yendle; Brian J O'Roak; Natalia Lozovaya; Nadine Bruneau; Nail Burnashev; Adiba Khan; Joseph Cook; Eileen Geraghty; Lynette G Sadleir; Samantha J Turner; Meng-Han Tsai; Richard Webster; Robert Ouvrier; John A Damiano; Samuel F Berkovic; Jay Shendure; Michael S Hildebrand; Pierre Szepetowski; Ingrid E Scheffer; Heather C Mefford
Journal: Nat Genet Date: 2013-08-11 Impact factor: 38.330

15 in total

Review 1. Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.

Authors: Kasper B Hansen; Lonnie P Wollmuth; Derek Bowie; Hiro Furukawa; Frank S Menniti; Alexander I Sobolevsky; Geoffrey T Swanson; Sharon A Swanger; Ingo H Greger; Terunaga Nakagawa; Chris J McBain; Vasanthi Jayaraman; Chian-Ming Low; Mark L Dell'Acqua; Jeffrey S Diamond; Chad R Camp; Riley E Perszyk; Hongjie Yuan; Stephen F Traynelis
Journal: Pharmacol Rev Date: 2021-10 Impact factor: 18.923

2. Synchrotron Radiation-Based Three-Dimensional Visualization of Angioarchitectural Remodeling in Hippocampus of Epileptic Rats.

Authors: Pan Gu; Zi-Hao Xu; Yu-Ze Cao; Sheng-Hui Liao; Qian-Fang Deng; Xian-Zhen Yin; Zhuo-Lu Wang; Zhuo-Hui Chen; Xin-Hang Hu; Hui Wang; Li-Zhi Li; Shi-Xin Liu; Hui Ding; Shu-Peng Shi; Hong-Lei Li; Ti-Qiao Xiao; Bo Xiao; Meng-Qi Zhang
Journal: Neurosci Bull Date: 2019-12-10 Impact factor: 5.203

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

1. Developmental changes in distribution of NMDA receptor channel subunit mRNAs.

Review 2. The NMDA receptor complex as a therapeutic target in epilepsy: a review.

3. Structure of the zinc-bound amino-terminal domain of the NMDA receptor NR2B subunit.

Review 4. GluN2A versus GluN2B: twins, but quite different.

5. Investigation of GRIN2A in common epilepsy phenotypes.

6. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

7. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

8. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

9. De novo mutations in epileptic encephalopathies.

10. GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

Review 1. Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.

2. Synchrotron Radiation-Based Three-Dimensional Visualization of Angioarchitectural Remodeling in Hippocampus of Epileptic Rats.

3. GRIN2A Variant in A 3-Year-Old-An Expanding Spectrum?

4. TRPV4 Regulates Soman-Induced Status Epilepticus and Secondary Brain Injury via NMDA Receptor and NLRP3 Inflammasome.

Review 5. The Reactive Plasticity of Hippocampal Ionotropic Glutamate Receptors in Animal Epilepsies.

Review 6. Adult Neurogenesis in Epileptogenesis: An Update for Preclinical Finding and Potential Clinical Translation.

Review 7. Role of Grina/Nmdara1 in the Central Nervous System Diseases.

Review 8. From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.

Review 9. Ionotropic Glutamate Receptors in Epilepsy: A Review Focusing on AMPA and NMDA Receptors.

10. Computational Evidence for a Competitive Thalamocortical Model of Spikes and Spindle Activity in Rolandic Epilepsy.