Literature DB >> 16932951

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

E Stogmann1, P Lichtner, C Baumgartner, M Schmied, C Hotzy, F Asmus, F Leutmezer, S Bonelli, E Assem-Hilger, K Vass, K Hatala, T M Strom, T Meitinger, F Zimprich, A Zimprich.   

Abstract

Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies in our population, we screened 96 patients with different epilepsy syndromes and a putative genetic background. No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.

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Year:  2006        PMID： 16932951     DOI： 10.1007/s10048-006-0057-x

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  12 in total

1.  Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus.

Authors:  A Sík; R L Smith; T F Freund
Journal:  Neuroscience       Date:  2000       Impact factor: 3.590

2.  Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Authors:  T Sander; H Schulz; K Saar; E Gennaro; M C Riggio; A Bianchi; F Zara; D Luna; C Bulteau; A Kaminska; D Ville; C Cieuta; F Picard; J F Prud'homme; L Bate; A Sundquist; R M Gardiner; G A Janssen; G J de Haan; D G Kasteleijn-Nolst-Trenité; A Bader; D Lindhout; O Riess; T F Wienker; D Janz; A Reis
Journal:  Hum Mol Genet       Date:  2000-06-12       Impact factor: 6.150

Review 3.  Pre-mRNA splicing and human disease.

Authors:  Nuno André Faustino; Thomas A Cooper
Journal:  Genes Dev       Date:  2003-02-15       Impact factor: 11.361

Review 4.  Sacred disease secrets revealed: the genetics of human epilepsy.

Authors:  Julie Turnbull; Hannes Lohi; Jennifer A Kearney; Guy A Rouleau; Antonio V Delgado-Escueta; Miriam H Meisler; Patrick Cossette; Berge A Minassian
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

5.  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

6.  Low expression of the ClC-2 chloride channel during postnatal development: a mechanism for the paradoxical depolarizing action of GABA and glycine in the hippocampus.

Authors:  M Mladinić; A Becchetti; F Didelon; A Bradbury; E Cherubini
Journal:  Proc Biol Sci       Date:  1999-06-22       Impact factor: 5.349

7.  Chip-based genotyping by mass spectrometry.

Authors:  K Tang; D J Fu; D Julien; A Braun; C R Cantor; H Köster
Journal:  Proc Natl Acad Sci U S A       Date:  1999-08-31       Impact factor: 11.205

8.  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

9.  The role of an inwardly rectifying chloride conductance in postsynaptic inhibition.

Authors:  K Staley
Journal:  J Neurophysiol       Date:  1994-07       Impact factor: 2.714

10.  Alteration of GABAA receptor function following gene transfer of the CLC-2 chloride channel.

Authors:  K Staley; R Smith; J Schaack; C Wilcox; T J Jentsch
Journal:  Neuron       Date:  1996-09       Impact factor: 17.173
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  7 in total

1.  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

2.  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 3.  Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential.

Authors:  Jakob Wolfart; Debora Laker
Journal:  Front Physiol       Date:  2015-06-15       Impact factor: 4.566

4.  GABA(A) receptors in normal development and seizures: friends or foes?

Authors:  Aristea S Galanopoulou
Journal:  Curr Neuropharmacol       Date:  2008-03       Impact factor: 7.363

5.  A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.

Authors:  Gilbert Q Martinez; Merritt Maduke
Journal:  PLoS One       Date:  2008-07-23       Impact factor: 3.240

Review 6.  Chloride channelopathies of ClC-2.

Authors:  Miao Miao Bi; Sen Hong; Hong Yan Zhou; Hong Wei Wang; Li Na Wang; Ya Juan Zheng
Journal:  Int J Mol Sci       Date:  2013-12-27       Impact factor: 5.923

7.  EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.

Authors:  Romita Thounaojam; Leader Langbang; Kavish Itisham; Roohollah Sobhani; Shivani Srivastava; Bhargavi Ramanujam; Ramesh Verma; Manjari Tripathi; Kripamoy Aguan
Journal:  Epilepsia Open       Date:  2017-02-01
  7 in total

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