Literature DB >> 28491004

Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.

Jennifer A Kearney.   

Abstract

Entities:  

Year:  2017        PMID: 28491004      PMCID: PMC5416858          DOI: 10.5698/1535-7511.17.2.112

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  11 in total

Review 1.  The structure and function of glutamate receptor ion channels.

Authors:  Dean R Madden
Journal:  Nat Rev Neurosci       Date:  2002-02       Impact factor: 34.870

2.  Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation.

Authors:  Pin Fee Chong; Ryoko Nakamura; Hirotomo Saitsu; Naomichi Matsumoto; Ryutaro Kira
Journal:  Ann Neurol       Date:  2016-02-12       Impact factor: 10.422

3.  Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Authors:  Fadi F Hamdan; Julie Gauthier; Yoichi Araki; Da-Ting Lin; Yuhki Yoshizawa; Kyohei Higashi; A-Reum Park; Dan Spiegelman; Sylvia Dobrzeniecka; Amélie Piton; Hideyuki Tomitori; Hussein Daoud; Christine Massicotte; Edouard Henrion; Ousmane Diallo; Masoud Shekarabi; Claude Marineau; Michael Shevell; Bruno Maranda; Grant Mitchell; Amélie Nadeau; Guy D'Anjou; Michel Vanasse; Myriam Srour; Ronald G Lafrenière; Pierre Drapeau; Jean Claude Lacaille; Eunjoon Kim; Jae-Ran Lee; Kazuei Igarashi; Richard L Huganir; Guy A Rouleau; Jacques L Michaud
Journal:  Am J Hum Genet       Date:  2011-03-03       Impact factor: 11.025

4.  Targeted treatment of migrating partial seizures of infancy with quinidine.

Authors:  David Bearden; Alanna Strong; Jessica Ehnot; Marissa DiGiovine; Dennis Dlugos; Ethan M Goldberg
Journal:  Ann Neurol       Date:  2014-07-26       Impact factor: 10.422

5.  N-methyl-D-aspartate receptor channel blockers prevent pentylenetetrazole-induced convulsions and morphological changes in rat brain neurons.

Authors:  Aleksey V Zaitsev; Kira Kh Kim; Dmitry S Vasilev; Nera Ya Lukomskaya; Valeria V Lavrentyeva; Natalia L Tumanova; Igor A Zhuravin; Lev G Magazanik
Journal:  J Neurosci Res       Date:  2014-10-31       Impact factor: 4.164

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

7.  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

8.  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

9.  KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Authors:  John J Millichap; Kristen L Park; Tammy Tsuchida; Bruria Ben-Zeev; Lionel Carmant; Robert Flamini; Nishtha Joshi; Paul M Levisohn; Eric Marsh; Srishti Nangia; Vinodh Narayanan; Xilma R Ortiz-Gonzalez; Marc C Patterson; Phillip L Pearl; Brenda Porter; Keri Ramsey; Emily L McGinnis; Maurizio Taglialatela; Molly Tracy; Baouyen Tran; Charu Venkatesan; Sarah Weckhuysen; Edward C Cooper
Journal:  Neurol Genet       Date:  2016-08-22

10.  Safety and Efficacy of Memantine in Children with Autism: Randomized, Placebo-Controlled Study and Open-Label Extension.

Authors:  Michael G Aman; Robert L Findling; Antonio Y Hardan; Robert L Hendren; Raun D Melmed; Ola Kehinde-Nelson; Hai-An Hsu; Joel M Trugman; Robert H Palmer; Stephen M Graham; Allyson T Gage; James L Perhach; Ephraim Katz
Journal:  J Child Adolesc Psychopharmacol       Date:  2016-03-15       Impact factor: 2.576

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  4 in total

1.  Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

Authors:  Xing-Xing Xu; Xiao-Rong Liu; Cui-Ying Fan; Jin-Xing Lai; Yi-Wu Shi; Wei Yang; Tao Su; Jun-Yu Xu; Jian-Hong Luo; Wei-Ping Liao
Journal:  Neurosci Bull       Date:  2017-09-21       Impact factor: 5.203

Review 2.  Electrophysiological Biomarkers in Genetic Epilepsies.

Authors:  Caren Armstrong; Eric D Marsh
Journal:  Neurotherapeutics       Date:  2021-10-12       Impact factor: 6.088

3.  Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Authors:  Wenshu XiangWei; Varun Kannan; Yuchen Xu; Gabrielle J Kosobucki; Anthony J Schulien; Hirofumi Kusumoto; Christelle Moufawad El Achkar; Subhrajit Bhattacharya; Gaetan Lesca; Sylvie Nguyen; Katherine L Helbig; Jean-Marie Cuisset; Christina Dühring Fenger; Dragan Marjanovic; Elisabeth Schuler; Ye Wu; Xinhua Bao; Yuehua Zhang; Nina Dirkx; An-Sofie Schoonjans; Steffen Syrbe; Scott J Myers; Annapurna Poduri; Elias Aizenman; Stephen F Traynelis; Johannes R Lemke; Hongjie Yuan; Yuwu Jiang
Journal:  Brain       Date:  2019-10-01       Impact factor: 13.501

4.  Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.

Authors:  Yuchen Xu; Rui Song; Wenjuan Chen; Katie Strong; Daniel Shrey; Satyanarayana Gedela; Stephen F Traynelis; Guojun Zhang; Hongjie Yuan
Journal:  Ann Clin Transl Neurol       Date:  2021-07-06       Impact factor: 4.511

  4 in total

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