Aims:
• To expand the clinical and molecular spectrum of UBAP1-related disorders.
• To characterize genotype–phenotype correlations.
• To establish longitudinal natural history data.
Methods:
• Inclusion criteria: individuals with molecularly confirmed UBAP1variants.
• Clinical, neuroimaging, and neurophysiological data collection.
• Functional studies on selected variants.
Expected outcomes:
• Improved diagnostic accuracy.
• Better prognostic counselling.
• Identification of potential therapeutic targets.
UBAP1