Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy and slow cognitive decline. No treatment is ava...

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Autors principals:	Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-02-01
Col·lecció:	Frontiers in Genetics
Matèries:	megalencephalic leukoencephalopathy with subcortical cysts MLC1 GlialCAM AQP4 GPRC5B leukodystrophy
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1352947/full
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