Targeted treatment of migrating partial seizures of infancy with quinidine

Migrating partial seizures of infancy is an early onset epileptic encephalopathy syndrome that is typically resistant to treatment. The most common cause is a gain of function mutation in the potassium channel KCNT1. The antiarrhythmic drug quinidine is a partial antagonist of KCNT1 and hence may be...

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Bibliographic Details
Published in:Annals of neurology 2014-09, Vol.76 (3), p.457-461
Main Authors: Bearden, David, Strong, Alanna, Ehnot, Jessica, DiGiovine, Marissa, Dlugos, Dennis, Goldberg, Ethan M.
Format: Article
Language:English
Subjects:
Anti-Arrhythmia Agents - administration & dosage
Anti-Arrhythmia Agents - pharmacology
Child, Preschool
Dose-Response Relationship, Drug
Electroencephalography
Epilepsies, Partial - drug therapy
Epilepsies, Partial - genetics
Epilepsies, Partial - physiopathology
Epilepsy
Exons - genetics
Female
Humans
Mutation, Missense - genetics
Nerve Tissue Proteins - antagonists & inhibitors
Nerve Tissue Proteins - genetics
Potassium Channels - genetics
Quinidine - administration & dosage
Quinidine - pharmacology
Treatment Outcome
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Summary:Migrating partial seizures of infancy is an early onset epileptic encephalopathy syndrome that is typically resistant to treatment. The most common cause is a gain of function mutation in the potassium channel KCNT1. The antiarrhythmic drug quinidine is a partial antagonist of KCNT1 and hence may be a candidate drug for treatment of this condition. We report the case of a child with migrating partial seizures of infancy secondary to an activating mutation in KCNT1 treated with quinidine. Treatment with quinidine was correlated with a marked reduction in seizure frequency and improved psychomotor development. Ann Neurol 2014;76:457–461
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.24229