Literature DB >> 25039795

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.

M Córdoba1, S Rodriguez, D González Morón, N Medina, M A Kauffman.   

Abstract

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Year:  2014        PMID： 25039795     DOI： 10.1111/cge.12423

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Authors:  Sergio Alejandro Rodríguez-Quiroga; Marta Cordoba; Dolores González-Morón; Nancy Medina; Patricia Vega; Cecilia Vazquez Dusefante; Tomoko Arakaki; Nélida Susana Garretto; Marcelo Andres Kauffman
Journal:  Genet Res (Camb)       Date:  2015       Impact factor: 1.588

2.  Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Authors:  Jacob R Stolz; Kendall M Foote; Hermine E Veenstra-Knol; Rolph Pfundt; Sanne W Ten Broeke; Nicole de Leeuw; Laura Roht; Sander Pajusalu; Reelika Part; Ionella Rebane; Katrin Õunap; Zornitza Stark; Edwin P Kirk; John A Lawson; Sebastian Lunke; John Christodoulou; Raymond J Louie; R Curtis Rogers; Jessica M Davis; A Micheil Innes; Xing-Chang Wei; Boris Keren; Cyril Mignot; Robert Roger Lebel; Steven M Sperber; Ai Sakonju; Nienke Dosa; Daniela Q C M Barge-Schaapveld; Cacha M P C D Peeters-Scholte; Claudia A L Ruivenkamp; Bregje W van Bon; Joanna Kennedy; Karen J Low; Sian Ellard; Lewis Pang; Joseph J Junewick; Paul R Mark; Gemma L Carvill; Geoffrey T Swanson
Journal:  Am J Hum Genet       Date:  2021-08-09       Impact factor: 11.025

3.  Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.

Authors:  Tsung-Ming Hu; Chia-Liang Wu; Shih-Hsin Hsu; Hsin-Yao Tsai; Fu-Yu Cheng; Min-Chih Cheng
Journal:  J Pers Med       Date:  2022-05-12

Review 4.  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

5.  Formation of the Mouse Internal Capsule and Cerebral Peduncle: A Pioneering Role for Striatonigral Axons as Revealed in Isl1 Conditional Mutants.

Authors:  Jacqueline M Ehrman; Paloma Merchan-Sala; Lisa A Ehrman; Bin Chen; Hee-Woong Lim; Ronald R Waclaw; Kenneth Campbell
Journal:  J Neurosci       Date:  2022-03-10       Impact factor: 6.709

6.  Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Authors:  Daniela Strunk; Peter Weber; Benno Röthlisberger; Isabel Filges
Journal:  Mol Cytogenet       Date:  2016-12-03       Impact factor: 2.009

7.  A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.

Authors:  Yomayra F Guzmán; Keri Ramsey; Jacob R Stolz; David W Craig; Mathew J Huentelman; Vinodh Narayanan; Geoffrey T Swanson
Journal:  Neurol Genet       Date:  2017-01-31

8.  The glutamate receptor GluK2 contributes to the regulation of glucose homeostasis and its deterioration during aging.

Authors:  Myriam Abarkan; Julien Gaitan; Fanny Lebreton; Romain Perrier; Manon Jaffredo; Christophe Mulle; Christophe Magnan; Matthieu Raoux; Jochen Lang
Journal:  Mol Metab       Date:  2019-10-01       Impact factor: 7.422

9.  Locus specific epigenetic modalities of random allelic expression imbalance.

Authors:  Lucile Marion-Poll; Benjamin Forêt; Dina Zielinski; Florian Massip; Mikael Attia; Ava C Carter; Laurène Syx; Howard Y Chang; Anne-Valerie Gendrel; Edith Heard
Journal:  Nat Commun       Date:  2021-09-09       Impact factor: 14.919

10.  Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Authors:  Marta Córdoba; Sergio Alejandro Rodriguez-Quiroga; Patricia Analía Vega; Valeria Salinas; Josefina Perez-Maturo; Hernán Amartino; Cecilia Vásquez-Dusefante; Nancy Medina; Dolores González-Morón; Marcelo Andrés Kauffman
Journal:  PLoS One       Date:  2018-02-01       Impact factor: 3.240
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