Epilepsy with myoclonic atonic seizures
ICD-10 G40.4 · ICD-11 8A61.2Y.2

Treatment of Epilepsy with Myoclonic Atonic Seizures in Patients with a Pathogenic Variant in the STXBP1 Gene

This protocol addresses epilepsy with myoclonic atonic seizures (EMAS) in a genetically defined subgroup: patients carrying a confirmed pathogenic variant in the STXBP1 gene. This genetic finding shapes the therapeutic approach for this population.

Clinical scenario: A child with epilepsy with myoclonic atonic seizures and a confirmed pathogenic variant in the STXBP1 gene — a specific genetic subpopulation in whom a targeted pharmacological approach has been studied.
Goal: Improved seizure control
Treatment direction: Evidence from a clinical study supports the use of a specific agent — 4-phenylbutyrate — in this STXBP1-variant population. The complete protocol, including dosing, schedule, and full clinical guidance, is available in the structured regimen below.
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References

Based on evidence from a preprint paper, treatment of children with pathogenic STXBP1 or SLC6A1 variants with 4-phenylbutyrate resulted in improved seizure control in a single-treatment, multiple-dose, open-label study.

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