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
2018
Electro-clinical characteristics and prognostic significance of post anoxic myoclonus
Dhakar MB, Sivaraju A, Maciel CB, Youn TS, Gaspard N, Greer DM, Hirsch LJ, Gilmore EJ. Electro-clinical characteristics and prognostic significance of post anoxic myoclonus. Resuscitation 2018, 131: 114-120. PMID: 29964146, DOI: 10.1016/j.resuscitation.2018.06.030.Peer-Reviewed Original ResearchConceptsPost-anoxic myoclonusRecovery of consciousnessElectro-clinical characteristicsComatose cardiac arrest survivorsLow voltage backgroundRetrospective chart reviewCardiac arrest survivorsElectro-clinical correlationsTime of dischargeContinuous EEG monitoringRelevant clinical variablesChart reviewHospital dischargeSpontaneous circulationArrest survivorsBrainstem reflexesCA survivorsPrognostic implicationsPrognostic significanceClinical variablesEEG findingsMyoclonusEEG monitoringPatientsLack of recovery