Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter

Abstract excerpt

Abstract Objective. Mutations in the KCNQ2 gene, encoding the voltage‐gated potassium channel, Kv7.2, cause neonatal epilepsies. The potassium channel opener, retigabine, may improve epilepsy control in cases with loss‐of‐function mutations, but exacerbate seizures in cases with gain‐of‐function mutations. Our aim was to describe a patient with a KCNQ2 mutation within the K+‐selectivity fi lter and illustrate how...

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