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Norway

PMID:28695146  

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

Marianna Bugiani | Mohit Dubey | Marjolein Breur | Nienke L Postma | Marien P Dekker | Timo Ter Braak | Ursula Boschert | Truus E M Abbink | Huibert D Mansvelder | Rogier Min | Jan R T van Weering | Marjo S van der Knaap
Annals of clinical and translational neurology | 2017

Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile-onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation; GlialCAM ensures the correct membrane localization of MLC1. Their exact role in brain ion-water homeostasis is only partly defined. We characterized Glialcam-null mice for further studies.

Pubmed ID: 28695146

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