Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature. Seizure 2017, 55: 1-3. PMID: 29291456, DOI: 10.1016/j.seizure.2017.11.017.Peer-Reviewed Original ResearchConceptsKCNT1 mutationsEpilepsy of infancyRetrospective chart reviewPotassium channel blockerYears of agePotential therapeutic agentFunction mutationsMigrating Focal SeizuresKCNT1 gainKCNT1 geneQuinidine initiationChart reviewRefractory seizuresSeizure frequencyQuinidine therapySeizure responseSeizure typesFocal seizuresEpilepsy syndromesVideo-EEGChannel blockersNew casesTherapeutic agentsPatientsAdditional childrenNovel clinical manifestations in patients with KCNA2 mutations
Sachdev M, Gaínza-Lein M, Tchapyjnikov D, Jiang YH, Loddenkemper T, Mikati MA. Novel clinical manifestations in patients with KCNA2 mutations. Seizure 2017, 51: 74-76. PMID: 28806589, DOI: 10.1016/j.seizure.2017.07.018.Peer-Reviewed Original ResearchConceptsGeneralized tonic-clonic seizuresTonic-clonic seizuresElectrical status epilepticusNovel clinical manifestationYear old maleStatus epilepticusKCNA2 mutationsClonic seizuresClinical manifestationsMyoclonic-astatic seizuresStatus epilepticus episodesYear old femaleYears of ageAstatic seizuresSeizure typesEpileptic manifestationsFocal seizuresPatient 1Patient 2Patient 3Clinical criteriaSevere manifestationsEpileptic encephalopathyBlood samplesPatients