Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay

Key Points

• Episodic ataxia is observed in association with a SNAP25 variant, indicating a potential link to neurological disorders.
• The identified SNAP25 variant correlates with both epileptic symptoms and developmental delays in affected individuals.
• Observational analysis uncovers this variant's involvement beyond epilepsy, impacting neurological development.
• These findings may enable new approaches in diagnosing and understanding episodic ataxia in broader contexts.