title: Targeted treatment of migrating partial seizures of infancy with quinidine.
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.
authors.affiliation: Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
authors.forename: David
authors.initials: D
authors.lastname: Bearden
authors.forename: Alanna
authors.initials: A
authors.lastname: Strong
authors.forename: Jessica
authors.initials: J
authors.lastname: Ehnot
authors.forename: Marissa
authors.initials: M
authors.lastname: DiGiovine
authors.forename: Dennis
authors.initials: D
authors.lastname: Dlugos
authors.forename: Ethan M
authors.initials: EM
authors.lastname: Goldberg
mesh_terms: D000889:Anti-Arrhythmia Agents / Q000008:administration & dosage / Q000494:pharmacology*; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000037:antagonists & inhibitors* / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D000081033:Potassium Channels, Sodium-Activated; D011802:Quinidine / Q000008:administration & dosage / Q000494:pharmacology*; D016896:Treatment Outcome
chemical_list: D000889:Anti-Arrhythmia Agents; C585122:KCNT1 protein, human; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D000081033:Potassium Channels, Sodium-Activated; D011802:Quinidine