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Updated: Oct 25, 2025

Rating L-DOPA-Induced Dyskinesias in the Unilaterally 6-OHDA-Lesioned Rat Model of Parkinson's Disease
Published on: October 4, 2021
[Paroxystic dyskinesia]
Sonja Holm-Yildiz1, Tina Dysgaard Jeppesen
1Sonja.desiree.holm-yildiz@regionh.dk.
Insights
A genetic variant in the PRRT2 gene caused a patient's epilepsy and choreoathetosis. Initially diagnosed with infantile convulsions and myopathy, the condition evolved, highlighting PRRT2's role in neurological disorders.
Area of Science:
- Neurology
- Genetics
- Case Reports
Background:
- A patient presented with early-onset epilepsy (atypical infantile convulsions) and later developed unspecific myopathy.
- Diagnostic re-evaluation at age 25 shifted focus from myopathy to neurological symptoms.
Abstract:
This is a case report of a patient, who was diagnosed with epilepsy (atypical infantile convulsions) at the age of one year and unspecific myopathy at the age of three years. At the age of 25 years, the patient was referred to a neuromuscular clinic due to myopathy, but the diagnose was changed to atypical infantile convulsions with seizures in adulthood and paroxysmal choreoathetosis due to a pathogenic variant c.970G>A, p. (Gly324Arg) in the PRRT2 gene.
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