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


Creative Commons License

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

LANCET NEUROLOGY, cilt.12, ss.659-668, 2013 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 12 Konu: 7
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/s1474-4422(13)70053-x
  • Dergi Adı: LANCET NEUROLOGY
  • Sayfa Sayısı: ss.659-668

Özet

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.