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Elena Timova

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Open access Jul 2026

Clinical heterogeneity and diagnostic challenges in CASK-related neurodevelopmental disorders: a longitudinal observational study

CASK-related disorders may present with severe neurodevelopmental impairment and cerebral palsy–like phenotypes, even in the absence of characteristic neuroimaging findings, which should raise suspicion for CASK-related disorders.

I. Pacheva, Elena Timova, T. Todorov et al. · Frontiers in Psychiatry · 0 citations