Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia

European Journal of Paediatric Neurology

Volumn 14, Issue 4, 2010, Pages 349-353

  McWilliam, Catherine A ^a   Ridout, Cheryl K ^b   Brown, Ruth M ^b   McWilliam, Robert C ^a   Tolmie, John ^a   Brown, Garry K ^b  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Episodic dystonia; Neuroimaging; Pyruvate dehydrogenase; Treatable

Indexed keywords

DIHYDROLIPOAMIDE ACETYLTRANSFERASE; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DYSTONIA; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KETOGENIC DIET; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE E2 DEFICIENCY;

AUTOANTIGENS; CELLS, CULTURED; CHILD; DIHYDROLIPOYLLYSINE-RESIDUE ACETYLTRANSFERASE; DYSTONIA; FEMALE; FIBROBLASTS; GENETIC TESTING; HUMANS; KETOGENIC DIET; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL PROTEINS; MUTATION; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 77953122223     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2009.11.001     Document Type: Article

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