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February 21, 2026Parkinsonism & Related Disorders

Early-onset epileptic encephalopathy combined with cerebellar ataxia: A case report expanding the phenotypic spectrum of UBA5-related disorders

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Authors

FMFarsana MustafaDGDivyani GargAAAyush Agarwal

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Overview

Case report reveals seizures and intellectual disability in early-onset encephalopathy, suggesting a phenotypic spectrum for UBA5 disorders.

Key Points

  • To describe a case of UBA5-associated disorder presenting as early-onset epileptic encephalopathy.
  • Case report of a patient with UBA5 pathogenic variant
  • Characterization of neurological symptoms and developmental status
  • Clinical evaluation of seizure control and intellectual decline
  • Patient exhibited well-controlled seizures and intellectual disability
  • Presence of cerebellar ataxia and dysarthria
  • Findings reflect a phenotypic intersection of DEE44 and SCAR24

Cite This Study

Mustafa et al. (2026) studied this question.

synapsesocial.com/papers/69990e0a5b97ab4c14ac31c8https://doi.org/10.1016/j.parkreldis.2026.108255
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