Abstract
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.
© 2014 American Neurological Association.
MeSH terms
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Anti-Arrhythmia Agents / administration & dosage
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Anti-Arrhythmia Agents / pharmacology*
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Child, Preschool
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Dose-Response Relationship, Drug
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Electroencephalography
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Epilepsies, Partial / drug therapy*
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Epilepsies, Partial / genetics
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Epilepsies, Partial / physiopathology
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Exons / genetics
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Female
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Humans
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Mutation, Missense / genetics
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Nerve Tissue Proteins / antagonists & inhibitors*
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Nerve Tissue Proteins / genetics
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Potassium Channels / genetics
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Potassium Channels, Sodium-Activated
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Quinidine / administration & dosage
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Quinidine / pharmacology*
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Treatment Outcome
Substances
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Anti-Arrhythmia Agents
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KCNT1 protein, human
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Nerve Tissue Proteins
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Potassium Channels
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Potassium Channels, Sodium-Activated
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Quinidine