Article
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Oct 2018
Dilena Robertino, DiFrancesco Jacopo C, Soldovieri Maria Virginia, Giacobbe Antonella, Ambrosino Paolo, Mosca Ilaria, Galli Maria Albina, Guez Sophie, Fumagalli Monica, Miceli Francesco, Cattaneo Dario, Darra Francesca, Gennaro Elena, Zara Federico, Striano Pasquale, Castellotti Barbara, Gellera Cinzia, Varesio Costanza, Veggiotti Pierangelo, Taglialatela Maurizio
Abstract excerpt
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare early-onset developmental epileptic encephalopathy resistant to anti-epileptic drugs. The most common cause for EIMFS is a gain-of-function mutation in the KCNT1 potassium channel gene, and treatment with the KCNT1 blocker quinidine has been suggested as a rational approach for seizure control in EIMFS patients. However, variable results on the...
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