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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Int J Mol Sci
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2018
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky