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

doi:10.3390/ijms19020619

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Article

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

International journal of molecular sciences - 22 Feb 2018

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

Abstract excerpt

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 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...

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PMID: 29470411
DOI: 10.3390/ijms19020619
PMCID: PMC5855841

Genes

PMM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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