Literature DB >> 31191200

Phenotypic Spectrum and Severity of Disease Depending on the Mutated Protein Domain of NMDA Receptor-Encoding Genes.

Martin Poot.   

Abstract

Year:  2019        PMID: 31191200      PMCID: PMC6528070          DOI: 10.1159/000500004

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


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  15 in total

Review 1.  Glutamate receptor ion channels: structure, regulation, and function.

Authors:  Stephen F Traynelis; Lonnie P Wollmuth; Chris J McBain; Frank S Menniti; Katie M Vance; Kevin K Ogden; Kasper B Hansen; Hongjie Yuan; Scott J Myers; Ray Dingledine
Journal:  Pharmacol Rev       Date:  2010-09       Impact factor: 25.468

Review 2.  Allosteric modulators of NMDA receptors: multiple sites and mechanisms.

Authors:  Shujia Zhu; Pierre Paoletti
Journal:  Curr Opin Pharmacol       Date:  2014-11-12       Impact factor: 5.547

3.  Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

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

4.  Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Authors:  Johannes R Lemke; Dennis Lal; Eva M Reinthaler; Isabelle Steiner; Michael Nothnagel; Michael Alber; Kirsten Geider; Bodo Laube; Michael Schwake; Katrin Finsterwalder; Andre Franke; Markus Schilhabel; Johanna A Jähn; Hiltrud Muhle; Rainer Boor; Wim Van Paesschen; Roberto Caraballo; Natalio Fejerman; Sarah Weckhuysen; Peter De Jonghe; Jan Larsen; Rikke S Møller; Helle Hjalgrim; Laura Addis; Shan Tang; Elaine Hughes; Deb K Pal; Kadi Veri; Ulvi Vaher; Tiina Talvik; Petia Dimova; Rosa Guerrero López; José M Serratosa; Tarja Linnankivi; Anna-Elina Lehesjoki; Susanne Ruf; Markus Wolff; Sarah Buerki; Gabriele Wohlrab; Judith Kroell; Alexandre N Datta; Barbara Fiedler; Gerhard Kurlemann; Gerhard Kluger; Andreas Hahn; D Edda Haberlandt; Christina Kutzer; Jürgen Sperner; Felicitas Becker; Yvonne G Weber; Martha Feucht; Hannelore Steinböck; Birgit Neophythou; Gabriel M Ronen; Ursula Gruber-Sedlmayr; Julia Geldner; Robert J Harvey; Per Hoffmann; Stefan Herms; Janine Altmüller; Mohammad R Toliat; Holger Thiele; Peter Nürnberg; Christian Wilhelm; Ulrich Stephani; Ingo Helbig; Holger Lerche; Fritz Zimprich; Bernd A Neubauer; Saskia Biskup; Sarah von Spiczak
Journal:  Nat Genet       Date:  2013-08-11       Impact factor: 38.330

5.  GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Authors:  Gaetan Lesca; Gabrielle Rudolf; Nadine Bruneau; Natalia Lozovaya; Audrey Labalme; Nadia Boutry-Kryza; Manal Salmi; Timur Tsintsadze; Laura Addis; Jacques Motte; Sukhvir Wright; Vera Tsintsadze; Anne Michel; Diane Doummar; Karine Lascelles; Lisa Strug; Patrick Waters; Julitta de Bellescize; Pascal Vrielynck; Anne de Saint Martin; Dorothee Ville; Philippe Ryvlin; Alexis Arzimanoglou; Edouard Hirsch; Angela Vincent; Deb Pal; Nail Burnashev; Damien Sanlaville; Pierre Szepetowski
Journal:  Nat Genet       Date:  2013-08-11       Impact factor: 38.330

6.  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

Review 7.  Human GRIN2B variants in neurodevelopmental disorders.

Authors:  Chun Hu; Wenjuan Chen; Scott J Myers; Hongjie Yuan; Stephen F Traynelis
Journal:  J Pharmacol Sci       Date:  2016-10-19       Impact factor: 3.337

8.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

9.  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

10.  GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Authors:  Tyler Mark Pierson; Hongjie Yuan; Eric D Marsh; Karin Fuentes-Fajardo; David R Adams; Thomas Markello; Gretchen Golas; Dimitre R Simeonov; Conisha Holloman; Anel Tankovic; Manish M Karamchandani; John M Schreiber; James C Mullikin; Cynthia J Tifft; Camilo Toro; Cornelius F Boerkoel; Stephen F Traynelis; William A Gahl
Journal:  Ann Clin Transl Neurol       Date:  2014-03-01       Impact factor: 4.511

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