# Chorea-acanthocytosis presenting with epilepsy at onset harboring novel compound heterozygous VPS13A mutations

**Authors:** Mitsuyoshi Tamura, Shogo Furukawa, Masahiro Namiki, Yukiko Ozawa, Yuka Urata, Masayuki Nakamura, Mitsuru Watanabe, Hideki Oshima, Toshiki Obuchi, Tadashi Ichikawa, Yuriko Kikkawa

PMC · DOI: 10.1016/j.prdoa.2026.100433 · 2026-03-15

## Full-text entities

- **Genes:** VPS13A (vacuolar protein sorting 13 homolog A) [NCBI Gene 23230] {aka BLTP5A, CHAC, CHOREIN}
- **Diseases:** Chorea-acanthocytosis (MESH:D054546), epilepsy (MESH:D004827)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC13011226/full.md

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Source: https://tomesphere.com/paper/PMC13011226