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

Tarih
2013
Yazar
Klooster, Jan
Brice, Alexis
de Die-Smulders, Christine E.
Vles, Johannes S.
Vanderver, Adeline
Uziel, Graziella
Yalcinkaya, Cengiz
van der Knaap, Marjo S.
Sedel, Frederic
Wolf, Nicole I.
Abbink, Truus E. M.
Frints, Suzanna G.
Kalscheuer, Vera M.
Kamermans, Maarten
Depienne, Christel
Bugiani, Marianna
Dupuits, Celine
Galanaud, Damien
Touitou, Valerie
Postma, Nienke
van Berkel, Carola
Polder, Emiel
Tollard, Eleonore
Darios, Frederic
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/42726
https://doi.org/10.1016/s1474-4422(13)70053-x
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