# Involuntary Eye Movements as a Clue to Diagnosis

**Authors:** Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Thiago Yoshinaga Tonholo Silva, Orlando Graziani Povoas Barsottini, José Luiz Pedroso

PMC · DOI: 10.1002/mdc3.70233 · 2025-07-14

## Full-text entities

- **Genes:** FGF14 (fibroblast growth factor 14) [NCBI Gene 2259] {aka FGF-14, FHF-4, FHF4, NYS4, SCA27, SCA27A}, GRID2 (glutamate ionotropic receptor delta type subunit 2) [NCBI Gene 2895] {aka GluD2, SCAR18}, CACNA1A (calcium voltage-gated channel subunit alpha1 A) [NCBI Gene 773] {aka APCA, BI, CACNL1A4, CAV2.1, DEE42, EA2}
- **Diseases:** Vertical nystagmus (MESH:D009759), truncal and gait ataxia (MESH:D001259), dystonic symptoms (MESH:D012816), spinocerebellar ataxia type 27A. (OMIM:193003), fever (MESH:D005334), seizures (MESH:D012640), genetic disorders (MESH:D030342), developmental delays (MESH:D002658), dystonia (MESH:D004421), involuntary eye movements (MESH:D020820), OGC (MESH:D001752), PTU (MESH:C566817), Opsoclonus (MESH:D015835), episodic ataxia (MESH:C580065), ocular deviations (MESH:D010262)
- **Chemicals:** dopamine (MESH:D004298), acetazolamide (MESH:D000086)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.353G>T, p.Gly118Val
- **Cell lines:** NM_004115.4 — Bos taurus (Bovine), Finite cell line (CVCL_3074)

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Source: https://tomesphere.com/paper/PMC12999019