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Article

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2010

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

Abstract excerpt

The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency...

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Source

Identifiers

PMID: 20022530
DOI: 10.1016/j.ejpn.2009.11.001

Genes

DLAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20022530-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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