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Article

Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.

Brain : a journal of neurology - 19 Apr 2023

Sperandeo Alessandra, Tamburini Claudia, Noakes Zoe, de la Fuente Daniel Cabezas, Keefe Francesca, Petter Olena, Plumbly William, Clifton Nicholas E, Li Meng, Peall Kathryn J

Abstract excerpt

Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the ε-sarcoglycan (SGCE) gene. Work to date suggests that dystonia is caused by disruption of neuronal networks, principally basal ganglia-cerebello-thalamo-cortical circuits. Investigation...

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Identifiers

PMID: 36204995
DOI: 10.1093/brain/awac365
PMCID: PMC10115238

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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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