ArticleNeurogenetics2006
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Article in Neurogenetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 29 citations in OpenAlex.
- Role of voltage-gated chloride channels in epilepsy: current insights and future directions.Frontiers in pharmacology · 2025Review
- Expanding the phenotypic spectrum ofBrain communications · 2024Article
- Development and validation of a potent and specific inhibitor for the CLC-2 chloride channel.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential.Frontiers in physiology · 2015Review
- Chloride channelopathies of ClC-2.International journal of molecular sciences · 2013Review
- ClC-2 voltage-gated channels constitute part of the background conductance and assist chloride extrusion.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.PloS one · 2008Article
- GABA(A) receptors in normal development and seizures: friends or foes?Current neuropharmacology · 2008Article
- Leukoencephalopathy upon disruption of the chloride channel ClC-2.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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