Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition
Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Molecular Case Studies 2015, 1: a000257. PMID: 27148561, PMCID: PMC4850896, DOI: 10.1101/mcs.a000257.Peer-Reviewed Original ResearchHigh-dose riboflavinProgressive neurological conditionExome sequencing resultsAutoimmune conditionsMotor strengthPatient outcomesBrown-VialettoRiboflavin treatmentAppropriate treatmentNeurological conditionsCorrect diagnosisFemale sufferingNew diagnosisSyndrome 2Neurological disordersRare Mendelian conditionsTherapy plansExome sequencingDiagnosisMendelian conditionsCareful interpretationTreatmentSequencing resultsChemotherapyExomeSustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReport