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[A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2022

Razheva D S, Khondkarian G Sh, Zavadenko N N

Abstract excerpt

Deficiency of the pyruvate dehydrogenase complex E1-alpha subunit is a rare genetic disease with X-linked dominant inheritance. The clinical spectrum of the disease is extremely wide: from lethal forms in children of the first year of life with lactic acidosis to chronic neurological manifestations with structural changes in the central nervous system without increasing the level of lactate in the blood. The...

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Identifiers

PMID: 36170095
DOI: 10.17116/jnevro202212209227

Provenance

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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[A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child].PMID 36170095Read ↗

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