2017
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 children
2010
Pseudometabolic presentation of dystrophinopathy due to a missense mutation
Veerapandiyan A, Shashi V, Jiang Y, Gallentine W, Schoch K, Smith E. Pseudometabolic presentation of dystrophinopathy due to a missense mutation. Muscle & Nerve 2010, 42: 975-979. PMID: 21104870, PMCID: PMC5506871, DOI: 10.1002/mus.21823.Peer-Reviewed Original ResearchConceptsMuscle stiffnessNormal neurological examinationRetrospective chart reviewIdentical point mutationMissense mutationsWestern blot analysisExertional myalgiaChart reviewNeurological examinationClinical findingsExercise intoleranceRecurrent rhabdomyolysisMetabolic myopathyClinical reportsDMD geneUnrelated boysInaccurate diagnosisMyalgiaRhabdomyolysisFurther studiesBlot analysisSpecific mutationsExon 15Amino acid substitutionsBoys