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[Preprint]. 2023 May 11:2023.05.10.23289776. [Version 1] doi: 10.1101/2023.05.10.23289776

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(A) Anti-seizure medication landscape across 61 individuals with STXBP1, showing the relative density of ASMs used in at least 10 individuals across the age span. (B) Characterization of medication response over time following treatment initiation, showing the reduction in seizure frequencies on a monthly basis for seizure more broadly (top) and spasms (bottom). (C) Relative effectiveness of ASM for seizures vary across short-term and long-term treatment response, with phenobarbital as a superior ASM in reducing seizure frequency while clobazam and the ketogenic diet were effective in maintaining seizure freedom. Only medications used in at least 10 individuals are shown.