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

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) identifier identifier identifier

  • 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


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.