Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptomsPatient‐detectable responsive neurostimulation as a seizure warning system
Quraishi IH, Hirsch LJ. Patient‐detectable responsive neurostimulation as a seizure warning system. Epilepsia 2021, 62: e110-e116. PMID: 34018182, PMCID: PMC8629031, DOI: 10.1111/epi.16933.Peer-Reviewed Original ResearchConceptsResponsive neurostimulation systemFocal impaired awareness seizuresProportion of patientsQuality of lifeSeizure warningTolerable symptomsClinical seizuresLatter therapySelect patientsAwareness seizuresEpileptiform activityEarly recognitionResponsive neurostimulationEpileptiform patternsCognitive impairmentPatientsNeurostimulation systemSymptomsSeizuresTherapyTreatment of clustersStimulationSeizure warning systemSeizure recognitionEpilepsy