Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort

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18 Oct 2026 0 comments

CONCLUSION: VPS13A disease in this multicentre Indian cohort demonstrated substantial molecular heterogeneity, including apparently novel and recurrent variants. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly those with seizures, highlighting that clinicians need to maintain a high degree of suspicion for VPS13A even in such presentations.