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Article

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

Physiological genomics - 16 Sept 2004

Niemeyer María Isabel, Yusef Yamil R, Cornejo Isabel, Flores Carlos A, Sepúlveda Francisco V, Cid L Pablo

Abstract excerpt

The ClC-2 Cl- channel has been postulated to play a role in the inhibitory GABA response in neurons or to participate in astrocyte-dependent extracellular electrolyte homeostasis. Three different mutations in the CLCN2 gene, encoding the voltage-dependent homodimeric ClC-2 channel, have been associated with idiopathic generalized epilepsy (IGE). We study their function in vitro by patch clamp and confocal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15252188
DOI: 10.1152/physiolgenomics.00070.2004

Genes

CLCN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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