TY  - JOUR 
AU  - Izquierdo-Serra, Mercè
AU  - Martínez-Monseny, Antonio
AU  - López, Laura
AU  - Carrillo-García, Julia
AU  - Edo, Albert
AU  - Ortigoza-Escobar, Juan
AU  - García, Óscar
AU  - Cancho-Candela, Ramón
AU  - Carrasco-Marina, M
AU  - Gutiérrez-Solana, Luis
AU  - Cuadras, Daniel
AU  - Muchart, Jordi
AU  - Montero, Raquel
AU  - Artuch, Rafael
AU  - Pérez-Cerdá, Celia
AU  - Pérez, Belén
AU  - Pérez-Dueñas, Belén
AU  - Macaya, Alfons
AU  - Fernández-Fernández, José
AU  - Serrano, Mercedes
PY  - 2018
UR  - https://uvadoc.uva.es/handle/10324/64723
AB  - 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 CaV2.1 channel). The underlying...
LA  - spa
PB  - MDPI
TI  - Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
DO  - 10.3390/ijms19020619
ER  -