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

dc.contributor.authorKlooster, Jan
dc.contributor.authorBrice, Alexis
dc.contributor.authorde Die-Smulders, Christine E.
dc.contributor.authorVles, Johannes S.
dc.contributor.authorVanderver, Adeline
dc.contributor.authorUziel, Graziella
dc.contributor.authorYalcinkaya, Cengiz
dc.contributor.authorvan der Knaap, Marjo S.
dc.contributor.authorSedel, Frederic
dc.contributor.authorWolf, Nicole I.
dc.contributor.authorAbbink, Truus E. M.
dc.contributor.authorFrints, Suzanna G.
dc.contributor.authorKalscheuer, Vera M.
dc.contributor.authorKamermans, Maarten
dc.contributor.authorDepienne, Christel
dc.contributor.authorBugiani, Marianna
dc.contributor.authorDupuits, Celine
dc.contributor.authorGalanaud, Damien
dc.contributor.authorTouitou, Valerie
dc.contributor.authorPostma, Nienke
dc.contributor.authorvan Berkel, Carola
dc.contributor.authorPolder, Emiel
dc.contributor.authorTollard, Eleonore
dc.contributor.authorDarios, Frederic
dc.date.accessioned2021-03-03T14:27:17Z
dc.date.available2021-03-03T14:27:17Z
dc.date.issued2013
dc.identifier.citationDepienne C., Bugiani M., Dupuits C., Galanaud D., Touitou V., Postma N., van Berkel C., Polder E., Tollard E., Darios F., et al., "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study", LANCET NEUROLOGY, cilt.12, sa.7, ss.659-668, 2013
dc.identifier.issn1474-4422
dc.identifier.otherav_398ec7dc-0d44-49c3-8645-5f5538f73157
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/42726
dc.identifier.urihttps://doi.org/10.1016/s1474-4422(13)70053-x
dc.description.abstractBackground 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.
dc.language.isoeng
dc.subjectTıp
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.titleBrain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
dc.typeMakale
dc.relation.journalLANCET NEUROLOGY
dc.contributor.departmentAssistance Publique Hopitaux Paris (APHP) , ,
dc.identifier.volume12
dc.identifier.issue7
dc.identifier.startpage659
dc.identifier.endpage668
dc.contributor.firstauthorID22929


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