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 accumulationPatientsSeizuresMiglustatSyndromeTherapySymptomsGerstmann Syndrome Deconstructed by Cortical Stimulation
Vaddiparti A, McGrath H, Benjamin C, Sivaraju A, Spencer DD, Hirsch LJ, Damisah E, Quraishi IH. Gerstmann Syndrome Deconstructed by Cortical Stimulation. Neurology 2021, 97: 420-422. PMID: 34187861, PMCID: PMC9246017, DOI: 10.1212/wnl.0000000000012441.Peer-Reviewed Original Research
2019
New onset refractory status epilepticus research: What is on the horizon?
Gofton TE, Gaspard N, Hocker SE, Loddenkemper T, Hirsch LJ. New onset refractory status epilepticus research: What is on the horizon? Neurology 2019, 92: 802-810. PMID: 30894443, DOI: 10.1212/wnl.0000000000007322.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusRefractory status epilepticusStatus epilepticusFebrile infection-related epilepsy syndromeMore rescue medicationsRescue medicationNew onsetActive epilepsyClinical featuresClinical presentationEpilepsy syndromesMetabolic causesNeurologic disordersPediatric EvaluationSpecific diagnosisAge groupsEpilepticusFamily supportFuture collaborative researchMedicationsPatientsFeverEpilepsyPathophysiologySyndrome
2018
Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions
Hirsch LJ, Gaspard N, van Baalen A, Nabbout R, Demeret S, Loddenkemper T, Navarro V, Specchio N, Lagae L, Rossetti AO, Hocker S, Gofton TE, Abend NS, Gilmore EJ, Hahn C, Khosravani H, Rosenow F, Trinka E. Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions. Epilepsia 2018, 59: 739-744. PMID: 29399791, DOI: 10.1111/epi.14016.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusFebrile infection-related epilepsy syndromeRefractory status epilepticusStatus epilepticusConsensus definitionEpilepsy syndromesFebrile infectionsCritical Care EEG Monitoring Research ConsortiumSuper-refractory status epilepticusRelated conditionsHemiconvulsion-HemiplegiaNew onsetActive epilepsyImproved communicationClinical presentationNeurocritical careMetabolic causesPediatric expertsEpilepticusRelevant neurological disordersConsensus conferenceSpecific diagnosisNeurological disordersMulticenter researchSyndrome
2014
Limbic Encephalitis Associated With Anti–Voltage-Gated Potassium Channel Complex Antibodies Mimicking Creutzfeldt-Jakob Disease
Yoo JY, Hirsch LJ. Limbic Encephalitis Associated With Anti–Voltage-Gated Potassium Channel Complex Antibodies Mimicking Creutzfeldt-Jakob Disease. JAMA Neurology 2014, 71: 79-82. PMID: 24247910, DOI: 10.1001/jamaneurol.2013.5179.Peer-Reviewed Original ResearchConceptsCreutzfeldt-Jakob diseaseFaciobrachial dystonic seizuresDystonic seizuresLimbic encephalitisPotassium channel complex antibodiesAbnormal basal gangliaCommon treatable conditionsMagnetic resonance imagingNonparaneoplastic formsProgressive confusionClinical featuresBasal gangliaTreatable conditionTreatable diseaseComplete resolutionSimilar presentationComplex antibodiesRapid onsetResonance imagingSyndromeEncephalitisReversible conditionDiseaseSeizuresImmunotherapy
2003
Absence Epilepsy with Onset before Age Three Years: Could this Be Glut‐1 Deficiency Syndrome (De Vivo Syndrome)?
Hirsch LJ. Absence Epilepsy with Onset before Age Three Years: Could this Be Glut‐1 Deficiency Syndrome (De Vivo Syndrome)? Epilepsia 2003, 45: 92-93. PMID: 14692915, DOI: 10.1111/j.0013-9580.2004.41503.x.Peer-Reviewed Original Research