Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.
Daniel T Kashima, Esther Yoon, Gemma L Carvill et al.
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Case in brief
The report qualitatively assessed treatment responses in five individuals with Dravet syndrome and 2q24.3 microdeletions involving SCN1A and other voltage-gated sodium-channel genes. Valproic acid, clobazam, and cannabidiol were reported to be beneficial, whereas levetiracetam and phenobarbital were not. The authors noted that further study is needed to assess fenfluramine and the ketogenic diet. The abstract does not provide individual clinical presentations, deletion details, or treatment-response measures.
What made this case unusual
The deletions involved a region containing a cluster of voltage-gated sodium-channel genes, a genetic context for which the abstract notes that consensus epilepsy-treatment recommendations are lacking.
Diagnostic / clinical pearl
In Dravet syndrome associated with 2q24.3 microdeletion, treatment responses reported in this small case series differed by medication: valproic acid, clobazam, and cannabidiol were beneficial, while levetiracetam and phenobarbital were not.
Why it matters
The findings highlight an evidence gap for treatment selection in this genetic subgroup; the authors call for additional studies, including of fenfluramine and the ketogenic diet.