Research uncovers genetic causes of severe developmental disabilities in individuals with KIF5C variants, suggesting potential for targeted therapies.
Pathogenic variants in KIF5C, encoding a neuronal kinesin motor protein, cause a rare neurodevelopmental disorder characterized by profound global developmental delay/intellectual disability mainly associated with absent speech and severe motor disability, epilepsy, and behavioral problems.
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Politano et al. (2026) studied this question.
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