Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

OBJECTIVE: Loss of function of the astrocyte‐specific protein MLC1 leads to the childhood‐onset leukodystrophy “megalencephalic leukoencephalopathy with subcortical cysts” (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regulation and suggest that disturbed brain ion and wa...

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Detalles Bibliográficos
Publicado en:Ann Neurol
Main Authors: Dubey, Mohit, Brouwers, Eelke, Hamilton, Eline M.C., Stiedl, Oliver, Bugiani, Marianna, Koch, Henner, Kole, Maarten H.P., Boschert, Ursula, Wykes, Robert C., Mansvelder, Huibert D., van der Knaap, Marjo S., Min, Rogier
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5900999/
https://ncbi.nlm.nih.gov/pubmed/29466841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25190
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