Literature DB >> 20037607

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.

María I Niemeyer, L Pablo Cid, Francisco V Sepúlveda, Judith Blanz, Muriel Auberson, Thomas J Jentsch.   

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Year:  2010        PMID： 20037607     DOI： 10.1038/ng0110-3

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  8 in total

1.  Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.

Authors:  M R Bösl; V Stein; C Hübner; A A Zdebik; S E Jordt; A K Mukhopadhyay; M S Davidoff; A F Holstein; T J Jentsch
Journal:  EMBO J       Date:  2001-03-15       Impact factor: 11.598

2.  CLCN2 variants in idiopathic generalized epilepsy.

Authors:  Ailing Kleefuss-Lie; Waltraut Friedl; Sven Cichon; Karsten Haug; Maike Warnstedt; Alexi Alekov; Thomas Sander; Alfredo Ramirez; Barbara Poser; Snezana Maljevic; Simon Hebeisen; Christian Kubisch; Johannes Rebstock; Steve Horvath; Kerstin Hallmann; Jörn S Dullinger; Birgit Rau; Fritz Haverkamp; Stefan Beyenburg; Herbert Schulz; Dieter Janz; Bernd Giese; Gerhard Müller-Newen; Peter Propping; Christian E Elger; Christoph Fahlke; Holger Lerche
Journal:  Nat Genet       Date:  2009-09       Impact factor: 38.330

3.  Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

Authors:  D D'Agostino; M Bertelli; S Gallo; S Cecchin; E Albiero; P G Garofalo; A Gambardella; J-M St Hilaire; H Kwiecinski; E Andermann; M Pandolfo
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

4.  Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Authors:  Karsten Haug; Maike Warnstedt; Alexi K Alekov; Thomas Sander; Alfredo Ramírez; Barbara Poser; Snezana Maljevic; Simon Hebeisen; Christian Kubisch; Johannes Rebstock; Steve Horvath; Kerstin Hallmann; Joern S Dullinger; Birgit Rau; Fritz Haverkamp; Stefan Beyenburg; Herbert Schulz; Dieter Janz; Bernd Giese; Gerhard Müller-Newen; Peter Propping; Christian E Elger; Christoph Fahlke; Holger Lerche; Armin Heils
Journal:  Nat Genet       Date:  2003-03-03       Impact factor: 38.330

5.  Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.

Authors:  María Isabel Niemeyer; Yamil R Yusef; Isabel Cornejo; Carlos A Flores; Francisco V Sepúlveda; L Pablo Cid
Journal:  Physiol Genomics       Date:  2004-07-13       Impact factor: 3.107

Review 6.  Chloride channelopathies.

Authors:  Rosa Planells-Cases; Thomas J Jentsch
Journal:  Biochim Biophys Acta       Date:  2009-03

7.  Leukoencephalopathy upon disruption of the chloride channel ClC-2.

Authors:  Judith Blanz; Michaela Schweizer; Muriel Auberson; Hannes Maier; Adrian Muenscher; Christian A Hübner; Thomas J Jentsch
Journal:  J Neurosci       Date:  2007-06-13       Impact factor: 6.167

Review 8.  CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.

Authors:  Thomas J Jentsch
Journal:  Crit Rev Biochem Mol Biol       Date:  2008 Jan-Feb       Impact factor: 8.250
  8 in total
  14 in total

Review 1.  Discovery of CLC transport proteins: cloning, structure, function and pathophysiology.

Authors:  Thomas J Jentsch
Journal:  J Physiol       Date:  2015-08-24       Impact factor: 5.182

2.  West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.

Authors:  Hailan He; Xiaoshuang Cao; Fei Yin; Tenghui Wu; Tobias Stauber; Jing Peng
Journal:  Mol Neurobiol       Date:  2021-02-16       Impact factor: 5.590

Review 3.  Cereblon in health and disease.

Authors:  Hyoung Kyu Kim; Tae Hee Ko; Bayalagmaa Nyamaa; Sung Ryul Lee; Nari Kim; Kyung Soo Ko; Byoung Doo Rhee; Chul-Seung Park; Bernd Nilius; Jin Han
Journal:  Pflugers Arch       Date:  2016-06-24       Impact factor: 3.657

4.  Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.

Authors:  Tim T Chen; Tara L Klassen; Alica M Goldman; Carla Marini; Renzo Guerrini; Jeffrey L Noebels
Journal:  Neurology       Date:  2013-02-13       Impact factor: 9.910

5.  ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease.

Authors:  Vladimir A Martínez-Rojas; Aura M Jiménez-Garduño; Daniela Michelatti; Laura Tosatto; Marta Marchioretto; Daniele Arosio; Manuela Basso; Maria Pennuto; Carlo Musio
Journal:  J Mol Neurosci       Date:  2020-08-28       Impact factor: 3.444

6.  Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel.

Authors:  Anna K Koster; Austin L Reese; Yuri Kuryshev; Xianlan Wen; Keri A McKiernan; Erin E Gray; Caiyun Wu; John R Huguenard; Merritt Maduke; J Du Bois
Journal:  Proc Natl Acad Sci U S A       Date:  2020-12-04       Impact factor: 12.779

Review 7.  CLC channel function and dysfunction in health and disease.

Authors:  Gabriel Stölting; Martin Fischer; Christoph Fahlke
Journal:  Front Physiol       Date:  2014-10-07       Impact factor: 4.566

8.  Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.

Authors:  Toshiyuki Yamamoto; Keiko Shimojima; Noriko Sangu; Yuta Komoike; Atsushi Ishii; Shinpei Abe; Shintaro Yamashita; Katsumi Imai; Tetsuo Kubota; Tatsuya Fukasawa; Tohru Okanishi; Hideo Enoki; Takuya Tanabe; Akira Saito; Toru Furukawa; Toshiaki Shimizu; Carol J Milligan; Steven Petrou; Sarah E Heron; Leanne M Dibbens; Shinichi Hirose; Akihisa Okumura
Journal:  PLoS One       Date:  2015-03-20       Impact factor: 3.240

9.  Early-life status epilepticus induces long-term deficits in anxiety and spatial learning in mice.

Authors:  Gregory Smith; Nowrin Ahmed; Erin Arbuckle; Joaquin N Lugo
Journal:  Int J Epilepsy       Date:  2017-01-09

Review 10.  Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.

Authors:  Paola Imbrici; Antonella Liantonio; Giulia M Camerino; Michela De Bellis; Claudia Camerino; Antonietta Mele; Arcangela Giustino; Sabata Pierno; Annamaria De Luca; Domenico Tricarico; Jean-Francois Desaphy; Diana Conte
Journal:  Front Pharmacol       Date:  2016-05-10       Impact factor: 5.810
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