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Perampanel as precision therapy in rare genetic epilepsies

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Perampanel, an antiseizure drug with α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ‐aminobutyric acid inhibition… Click to show full abstract

Perampanel, an antiseizure drug with α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ‐aminobutyric acid inhibition (e.g., SCN1A), overactive excitatory neurons (e.g., SCN2A, SCN8A), and variants in glutamate receptors (e.g., GRIN2A) hold special interest. We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy.

Keywords: precision therapy; therapy rare; rare genetic; perampanel precision; genetic epilepsies

Journal Title: Epilepsia
Year Published: 2023

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