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Article

Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice.

eLife - 23 Dec 2019

Washburn Samantha, Fremont Rachel, Moreno-Escobar Maria Camila, Angueyra Chantal, Khodakhah Kamran

Abstract excerpt

Myoclonus dystonia (DYT11) is a movement disorder caused by loss-of-function mutations in SGCE and characterized by involuntary jerking and dystonia that frequently improve after drinking alcohol. Existing transgenic mouse models of DYT11 exhibit only mild motor symptoms, possibly due to rodent-specific developmental compensation mechanisms, which have limited the study of neural mechanisms underlying DYT11. To...

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Identifiers

PMID: 31868164
DOI: 10.7554/eLife.52101
PMCID: PMC6959989

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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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