Palliative GPi-DBS improves dystonia in patients with SCN2A-related epileptic encephalopathy, suggesting potential treatment avenues.
Background/Purpose: SCN2A-related developmental and epileptic encephalopathy (DEE) is a rare neurogenetic disorder typically presenting with early-onset epilepsy and profound intellectual disability. In addition to seizures, affected individuals may develop hyperkinetic movement disorders, including dystonia, chorea, and ataxia. Treatment options for refractory dystonia in this population remain limited.
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Abela et al. (2025) studied this question.
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