# A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

**Authors:** Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci

PMC · DOI: 10.1002/mds.70077 · Movement Disorders · 2025-09-26

## Full-text entities

- **Genes:** RNF213 (ring finger protein 213) [NCBI Gene 57674] {aka ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57}
- **Diseases:** Stroke-Like Episodes (MESH:D017241), Leigh Syndrome-Like Encephalopathy (MESH:C538590), Chorea (MESH:D002819)

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## References

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