Featured Publications
Patient‐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
2021
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 accumulationPatientsSeizuresMiglustatSyndromeTherapySymptoms