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Article

X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.

Movement disorders clinical practice - 1 May 2024

Guimarães Thiago Gonçalves, Parmera Jacy Bezerra, Castro Matheus Augusto Araújo, Cury Rubens Gisbert, Barbosa Egberto Reis, Kok Fernando

Abstract excerpt

BACKGROUND: Genetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials. CASES: We report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant...

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Identifiers

PMID: 38341651
DOI: 10.1002/mdc3.13992
PMCID: PMC11078492

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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