Article
Quinidine in the treatment of KCNT1-positive epilepsies.
Annals of neurology - 1 Dec 2015
Mikati Mohamad A, Jiang Yong-Hui, Carboni Michael, Shashi Vandana, Petrovski Slave, Spillmann Rebecca, Milligan Carol J, Li Melody, Grefe Annette, McConkie Allyn, Berkovic Samuel, Scheffer Ingrid, Mullen Saul, Bonner Melanie, Petrou Steven, Goldstein David
Abstract excerpt
We report 2 patients with drug-resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in vitro, showing increased current that was reduced by quinidine. One, who had epilepsy of infancy with migrating focal seizures, had 80% reduction in seizure frequency as recorded in seizure diaries, and partially validated by objective seizure evaluation on...
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