Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene cite web Mutations of this gene have been found to cause leukoencephalopathy and Idiopathic generalised epilepsy cite journal cite journal CLCN2 contains a transmembrane region that is involved...
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
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The Lancet. Neurology, ISSN: 1474-4465, Vol: 12, Issue: 7, Page: 659-68
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- Medicine; Neurology
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Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to define novel disorders characterised by distinct patterns of MRI abnormalities in patients with leukoencephalopathies of unknown origin, and to identify the genes mutated in these disorders. We were specifically interested in leukoencephalopathies characterised by white matter oedema, suggesting a defect in ion and water homoeostasis.