无证据表明CLCN2基因变异在特发性全身性癫痫中起作用。 - Suppr

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

作者信息

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

出版信息

Nat Genet. 2010 Jan;42(1):3. doi: 10.1038/ng0110-3.

DOI:10.1038/ng0110-3

PMID:20037607

Abstract

摘要

相似文献

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

Nat Genet. 2010 Jan;42(1):3. doi: 10.1038/ng0110-3.

CLCN2 variants in idiopathic generalized epilepsy.

Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954.

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

Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24.

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

Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876.

CLCN2 and idiopathic generalized epilepsy.

Adv Neurol. 2005;95:265-71.

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

Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3.

[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions].

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S90-7. doi: 10.1016/s0035-3787(04)71011-5.

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a.

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

Physiol Genomics. 2004 Sep 16;19(1):74-83. doi: 10.1152/physiolgenomics.00070.2004. Epub 2004 Jul 13.

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x.

引用本文的文献

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Am J Med Genet A. 2025 Jul 9:e64153. doi: 10.1002/ajmg.a.64153.

Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.

J Transl Med. 2024 Nov 27;22(1):1073. doi: 10.1186/s12967-024-05769-5.

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.

J Neurol. 2024 Jun;271(6):3063-3094. doi: 10.1007/s00415-024-12352-x. Epub 2024 Apr 12.

Expanding the phenotypic spectrum of -related leucoencephalopathy and ataxia.

Brain Commun. 2023 Oct 17;6(1):fcad273. doi: 10.1093/braincomms/fcad273. eCollection 2024.

Seizures and central vestibular nystagmus as the initial presentation of leukoencephalopathy with ataxia (LKPAT).

Neurol Sci. 2023 Mar;44(3):1083-1085. doi: 10.1007/s10072-022-06464-3. Epub 2022 Oct 27.

Challenges in Decoding Sudden Unexpected Death in Epilepsy: The Intersection Between Heart and Brain in Epilepsy.

J Am Heart Assoc. 2021 Dec 7;10(23):e023571. doi: 10.1161/JAHA.121.023571. Epub 2021 Nov 24.

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

Mol Neurobiol. 2021 Jun;58(6):2990-2999. doi: 10.1007/s12035-021-02291-3. Epub 2021 Feb 16.

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

Proc Natl Acad Sci U S A. 2020 Dec 22;117(51):32711-32721. doi: 10.1073/pnas.2009977117. Epub 2020 Dec 4.

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

J Mol Neurosci. 2021 Mar;71(3):662-674. doi: 10.1007/s12031-020-01687-5. Epub 2020 Aug 28.

Dynamical model of the CLC-2 ion channel reveals conformational changes associated with selectivity-filter gating.

PLoS Comput Biol. 2020 Mar 30;16(3):e1007530. doi: 10.1371/journal.pcbi.1007530. eCollection 2020 Mar.

本文引用的文献

CLCN2 variants in idiopathic generalized epilepsy.

Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954.

Chloride channelopathies.

Biochim Biophys Acta. 2009 Mar;1792(3):173-89. doi: 10.1016/j.bbadis.2009.02.002.

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

Crit Rev Biochem Mol Biol. 2008 Jan-Feb;43(1):3-36. doi: 10.1080/10409230701829110.

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

J Neurosci. 2007 Jun 13;27(24):6581-9. doi: 10.1523/JNEUROSCI.0338-07.2007.

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.

Neurology. 2004 Oct 26;63(8):1500-2. doi: 10.1212/01.wnl.0000142093.94998.1a.

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

Physiol Genomics. 2004 Sep 16;19(1):74-83. doi: 10.1152/physiolgenomics.00070.2004. Epub 2004 Jul 13.

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

Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3.

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

EMBO J. 2001 Mar 15;20(6):1289-99. doi: 10.1093/emboj/20.6.1289.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

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

作者信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献