Journal article

Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine

Saul A Mullen, Patrick W Carney, Annie Roten, Michael Ching, Paul A Lightfoot, Leonid Churilov, Umesh Nair, Melody Li, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2018

Abstract

OBJECTIVE: To evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1. METHODS: A single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients with severe autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) due to KCNT1 mutation. Order was block randomized and blinded. Four-day treatment blocks were used with a 2-day washout between. Dose started at 900 mg over 3 divided doses then, in subsequent participants, was reduced to 600 mg, then 300 mg. Primary outcome was seizure frequency measured on continuous video-EEG in those completing the trial..

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