Key result
The novel KCNQ2 E140Q variant caused dramatic loss-of-function effects in Kv7.2 channels, which were restored by retigabine in vitro.
Why the study?
Does retigabine restore function in Kv7.2 channels with the E140Q mutation?
Case Report (n=1)
Does retigabine restore function in Kv7.2 channels with the E140Q mutation?
Retigabine restores function in a novel Kv7.2 E140Q loss-of-function variant associated with neonatal onset epileptic encephalopathy, supporting the use of Kv7 activators as personalized therapy.
No takes yet. Share an insight, caveat, or question.
May support Kv7 activators for E140Q encephalopathy; leaves open clinical translation from in vitro data.
Soldovieri et al. (2019) conducted a case report in Epileptic and developmental encephalopathy (DEE) (n=1). KCNQ2 E140Q variant was evaluated on Functional effects of the E140Q mutation on Kv7.2 channels. The novel KCNQ2 E140Q variant caused dramatic loss-of-function effects in Kv7.2 channels, which were restored by retigabine in vitro.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: