Uncovers sensory neuronopathy and epilepsy in a woman with a VPS13A variant, suggesting expanded phenotypic features.
A 29-year-old woman with a novel homozygous VPS13A frameshift variant presented with drug-resistant temporal-lobe epilepsy and severe sensory neuronopathy, but no acanthocytes on repeated blood smears-expanding the phenotypic spectrum of chorea-acanthocytosis beyond its defining haematological feature.
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Tamaoui et al. (2026) studied this question.
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