Ontology highlight
ABSTRACT:
SUBMITTER: Izquierdo-Serra M
PROVIDER: S-EPMC5855841 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Izquierdo-Serra Mercè M Martínez-Monseny Antonio F AF López Laura L Carrillo-García Julia J Edo Albert A Ortigoza-Escobar Juan Darío JD García Óscar Ó Cancho-Candela Ramón R Carrasco-Marina M Llanos ML Gutiérrez-Solana Luis G LG Cuadras Daniel D Muchart Jordi J Montero Raquel R Artuch Rafael R Pérez-Cerdá Celia C Pérez Belén B Pérez-Dueñas Belén B Macaya Alfons A Fernández-Fernández José M JM Serrano Mercedes M
International journal of molecular sciences 20180222 2
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 <i>CACNA1A</i> (encoding Ca<sub>V</sub>2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal Ca<sub>V</sub>2.1 function due to aberrant <i>N</i>-glycosylation as a ...[more]