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

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

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

Koleksiyonlar

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