Article

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine Type 1 Progressive Myoclonus Epilepsy

2023-07-13

Abstract excerpt

<title>Abstract</title> Unverricht-Lundborg disease (ULD) is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and severely disabling myoclonus, seizures, ataxia, psychiatric disease, dementia and shortened lifespan. This disease is caused by recurrent expansions of an expansion-prone human genome specific dodecamer repeat sequence in the promoter of <...

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Literature Corpus work: 19856779-f24d-58d6-b458-d5c2842fa841
DOI: 10.21203/rs.3.rs-3112340/v1

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