Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca(V)2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical var...

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Pubblicato in:Int J Mol Sci
Autori principali: Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G., Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M., Serrano, Mercedes
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5855841/
https://ncbi.nlm.nih.gov/pubmed/29470411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19020619
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