Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

International Journal of Molecular Sciences

Volumn 19, Issue 2, 2018, Pages

  Izquierdo Serra, Mercè ^a   Martínez Monseny, Antonio F ^b   López, Laura ^c   Carrillo García, Julia ^a   Edo, Albert ^a   Ortigoza Escobar, Juan Darío ^b,d   García, Óscar ^e   Cancho Candela, Ramón ^f   Carrasco Marina, M Llanos ^g   Gutiérrez Solana, Luis G ^c   Cuadras, Daniel ^h   Muchart, Jordi ^b,d   Montero, Raquel ^b,d   Artuch, Rafael ^b,d   Pérez Cerdá, Celia ^d   Pérez, Belén ^d   Pérez Dueñas, Belén ^b,d   Macaya, Alfons ⁱ   Fernández Fernández, José M ^a   Serrano, Mercedes ^b,d  

^a UNIVERSITAT POMPEU FABRA   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e HOSPITAL VIRGEN DE LA SALUD   (Spain)

^f HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^g HOSPITAL SEVERO OCHOA   (Spain)

^h Quintiles   (Spain)

ⁱ UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Ataxia; CaV2.1 voltage gated calcium channel; Cerebellum; Congenital disorders of glycosylation; Magentic resonance Imaging (MRI); Stroke like

Indexed keywords

PHOSPHOMANNOMUTASE; TUNICAMYCIN; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL; MUTASE;

ADULT; ARTICLE; ATAXIA; CACNA1A GENE; CHILD; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE MUTATION; GLYCOSYLATION; HEAD INJURY; HEK293 CELL LINE; HUMAN; LIVER FUNCTION; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MUTAGENESIS; NEUROIMAGING; NEURONAL CHANNELOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PMM2 GENE; PROTEIN EXPRESSION; RISK FACTOR; SEIZURE; WESTERN BLOTTING; YOUNG ADULT; ADOLESCENT; AMINO ACID SEQUENCE; CEREBELLUM DISEASE; CEREBROVASCULAR ACCIDENT; CHANNEL GATING; CHANNELOPATHY; CHEMISTRY; COMPLICATION; DEFICIENCY; DIAGNOSTIC IMAGING; DRUG EFFECT; GENETICS; METABOLISM; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; CALCIUM CHANNELS; CEREBELLAR DISEASES; CHANNELOPATHIES; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; FEMALE; GLYCOSYLATION; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); STROKE; TUNICAMYCIN;

EID: 85042509697     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms19020619     Document Type: Article

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