Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, Christel; Bugiani, Marianna; Dupuits, Celine; Galanaud, Damien; Touitou, Valerie; Postma, Nienke; van Berkel, Carola; Polder, Emiel; Tollard, Eleonore; Darios, Frederic; Brice, Alexis; de Die-Smulders, Christine; Vles, Johannes; Vanderver, Adeline; Uziel, Graziella; Yalcinkaya, Cengiz; Frints, Suzanna; Kalscheuer, Vera; Klooster, Jan; Kamermans, Maarten; Abbink, Truus; Wolf, Nicole; Sedel, Frederic; van der Knaap, Marjo

doi:10.1016/s1474-4422(13)70053-x

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

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Depienne C., Bugiani M., Dupuits C., Galanaud D., Touitou V., Postma N., ...More

LANCET NEUROLOGY, vol.12, no.7, pp.659-668, 2013 (SCI-Expanded)

Publication Type: Article / Article
Volume: 12 Issue: 7
Publication Date: 2013
Doi Number: 10.1016/s1474-4422(13)70053-x
Journal Name: LANCET NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.659-668
Istanbul University Affiliated: Yes

Abstract

Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water hornoeostasis, but this has not been confirmed in human beings. We aimed to define novel disorders characterised by distinct patterns of MR1 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.