Case reportConcurrent Quinidine and Phenobarbital in the Treatment of a Patient with 2 KCNT1 Mutations

Add time:09/01/2019    Source:sciencedirect.com

ABSTRACTEpilepsy of infancy with migrating focal seizures is a devastating pediatric neurologic disorder that often results in treatment-resistant seizure activity and developmental delay. The condition has been associated with mutations in the KCNT1 gene that cause a gain of function in neuronal sodium-activated potassium channels. Quinidine has been shown to reverse this gain of function and has recently been used to reduce seizure activity in patients with these mutations. We report the case of an infant with 2 KCNT1 mutations who experienced minor relief with quinidine and discuss the drug's important interaction with phenobarbital.

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