Literature DB >> 23999465

Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders.

Katie Kingwell.   

Abstract

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Year:  2013        PMID: 23999465     DOI: 10.1038/nrneurol.2013.181

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


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  4 in total

1.  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

2.  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

3.  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

4.  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

  4 in total
  5 in total

1.  A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome.

Authors:  Anthony D Schmitt; Ming Hu; Inkyung Jung; Zheng Xu; Yunjiang Qiu; Catherine L Tan; Yun Li; Shin Lin; Yiing Lin; Cathy L Barr; Bing Ren
Journal:  Cell Rep       Date:  2016-11-15       Impact factor: 9.423

2.  GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

Authors:  Wenjuan Chen; Christine Shieh; Sharon A Swanger; Anel Tankovic; Margaret Au; Marianne McGuire; Michele Tagliati; John M Graham; Suneeta Madan-Khetarpal; Stephen F Traynelis; Hongjie Yuan; Tyler Mark Pierson
Journal:  J Hum Genet       Date:  2017-02-23       Impact factor: 3.172

3.  Phenotypic analysis of 303 multiplex families with common epilepsies.

Authors: 
Journal:  Brain       Date:  2017-08-01       Impact factor: 13.501

4.  The transcription factor NRSF contributes to epileptogenesis by selective repression of a subset of target genes.

Authors:  Shawn McClelland; Gary P Brennan; Celine Dubé; Seeta Rajpara; Shruti Iyer; Cristina Richichi; Christophe Bernard; Tallie Z Baram
Journal:  Elife       Date:  2014-08-12       Impact factor: 8.140

Review 5.  Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

Authors:  Lucia Abela; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-06-13       Impact factor: 4.982

  5 in total

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