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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Depienne, Christel; Bugiani, Marianna; Dupuits, Céline; Galanaud, Damien; Touitou, Valérie; Postma, Nienke; van Berkel, Carola; Polder, Emiel; Tollard, Eleonore; Darios, Frédéric; Brice, Alexis; de Die-Smulders, Christine E; Vles, Johannes S; Vanderver, Adeline; Uziel, Graziella; Yalcinkaya, Cengiz; Frints, Suzanna G; Kalscheuer, Vera M; Klooster, Jan; Kamermans, Maarten; Abbink, Truus Em; Wolf, Nicole I; Sedel, Frédéric; van der Knaap, Marjo S Show More Hide
Elsevier BV
Medicine; Neurology
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article description
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.