Literature DB >> 19710712

CLCN2 variants in idiopathic generalized epilepsy.

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.   

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Year:  2009        PMID： 19710712     DOI： 10.1038/ng0909-954

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


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  5 in total

1.  CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

Authors:  John W Scott; Simon A Hawley; Kevin A Green; Miliea Anis; Greg Stewart; Gillian A Scullion; David G Norman; D Grahame Hardie
Journal:  J Clin Invest       Date:  2004-01       Impact factor: 14.808

2.  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

3.  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

4.  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

5.  Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Authors:  Cécile Saint-Martin; Grégory Gauvain; Georgeta Teodorescu; Isabelle Gourfinkel-An; Estelle Fedirko; Yvonne G Weber; Snezana Maljevic; Jan-Peter Ernst; Jennie Garcia-Olivares; Christoph Fahlke; Rima Nabbout; Eric LeGuern; Holger Lerche; Jean Christophe Poncer; Christel Depienne
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878
  5 in total
  22 in total

Review 1.  ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.

Authors:  Leigh Wellhauser; Christina D'Antonio; Christine E Bear
Journal:  Pflugers Arch       Date:  2010-01-05       Impact factor: 3.657

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

Authors:  María I Niemeyer; L Pablo Cid; Francisco V Sepúlveda; Judith Blanz; Muriel Auberson; Thomas J Jentsch
Journal:  Nat Genet       Date:  2010-01       Impact factor: 38.330

3.  Retraction: 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
Journal:  Nat Genet       Date:  2009-09       Impact factor: 38.330

Review 4.  The signaling role for chloride in the bidirectional communication between neurons and astrocytes.

Authors:  Corinne S Wilson; Alexander A Mongin
Journal:  Neurosci Lett       Date:  2018-01-09       Impact factor: 3.046

5.  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 6.  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

7.  Regulation of ClC-2 gating by intracellular ATP.

Authors:  Gabriel Stölting; Georgeta Teodorescu; Birgit Begemann; Julian Schubert; Rima Nabbout; Mohammad Reza Toliat; Thomas Sander; Peter Nürnberg; Holger Lerche; Christoph Fahlke
Journal:  Pflugers Arch       Date:  2013-05-01       Impact factor: 3.657

Review 8.  Genetic forms of epilepsies and other paroxysmal disorders.

Authors:  Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Semin Neurol       Date:  2014-09-05       Impact factor: 3.420

9.  Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Authors:  Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-01-19       Impact factor: 5.864

Review 10.  Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases.

Authors:  Kristopher T Kahle; Jesse Rinehart; Richard P Lifton
Journal:  Biochim Biophys Acta       Date:  2010-07-15
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