JLE

Epileptic Disorders

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Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter Volume 23, numéro 5, October 2021

TEST YOURSELF

(1) Are functional studies important in predicting the effect of potassium channel openers in cases with KCNQ2 mutation?

 

(2) Are potassium channel openers useful in cases with KCNQ2 complete loss-of-function mutations (non-conducting channels)?

 

(3) Does age at onset of treatment affect outcome?

 

 

 

 

 

 

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Answers

(1) Yes, functional studies are important as potassium channel openers (retigabine) improve seizure control in cases with loss-of-function mutations, and may worsen seizures in cases with gain-of-function mutations.

 

(2) Potassium channel openers (retigabine) do not affect non-conducting channels, but increase current via tetramer channels made of subunits encoded by the normal allele and KCNQ3.

 

(3) Early treatment may improve seizures as well as developmental outcome, while late treatment may have no effect on developmental outcome.

 

 

 

 

 

 

 

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