CLCN2-Gen

Stowasser M et al. (1992) Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism.

Cid LP et al. (1995) Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues.

Schwiebert EM et al. (1998) Analysis of ClC-2 channels as an alternative pathway for chloride conduction in cystic fibrosis airway cells.

Sander T et al. (2000) Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Sík A et al. (2000) Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus.

Bösl MR et al. (2001) Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.

Haug K et al. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Niemeyer MI et al. (2004) Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.

Stogmann E et al. (2006) Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Blanz J et al. (2007) Leukoencephalopathy upon disruption of the chloride channel ClC-2.

Saint-Martin C et al. (2009) Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Kleefuss-Lie A et al. (2009) CLCN2 variants in idiopathic generalized epilepsy.

Niemeyer MI et al. (2010) No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.

Depienne C et al. (2013) Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Scholl UI et al. (2018) CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Fernandes-Rosa FL et al. (2018) A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.