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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Veröffentlicht in:Annals of neurology 2014-09, Vol.76 (3), p.457-461
Hauptverfasser: Bearden, David, Strong, Alanna, Ehnot, Jessica, DiGiovine, Marissa, Dlugos, Dennis, Goldberg, Ethan M.
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Sprache:eng
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Zusammenfassung: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