2023
Neuropathology of New-Onset Refractory Status Epilepticus (NORSE)
Hanin A, Cespedes J, Huttner A, Strelnikov D, Gopaul M, DiStasio M, Vezzani A, Hirsch L, Aronica E. Neuropathology of New-Onset Refractory Status Epilepticus (NORSE). Journal Of Neurology 2023, 270: 3688-3702. PMID: 37079033, DOI: 10.1007/s00415-023-11726-x.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusCryptogenic new-onset refractory status epilepticusRefractory status epilepticusNeuropathology findingsStatus epilepticusSecondary neuronal injuryCryptogenic casesFebrile illnessNeuronal injuryExtensive workupNeuropathological evaluationEpilepsy surgeryPathophysiological mechanismsUnknown causePatient managementLong-term consequencesSevere formSpecific treatmentEpilepticusTissue samplesBiopsyPatientsFindings of studiesAutopsiesFindingsReview and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus
Hanin A, Cespedes J, Pulluru Y, Gopaul M, Aronica E, Decampo D, Helbig I, Howe C, Huttner A, Koh S, Navarro V, Taraschenko O, Vezzani A, Wilson M, Xian J, Gaspard N, Hirsch L. Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus. Epilepsia 2023, 64: 1444-1457. PMID: 37039049, PMCID: PMC10756682, DOI: 10.1111/epi.17600.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusFebrile infection-related epilepsy syndromeRefractory status epilepticusStatus epilepticusCollection of biospecimensManagement of patientsStatus epilepticus patientsBetter clinical managementDisease-specific therapiesFebrile illnessStudy cohortEpilepsy syndromesOutcome endpointsStandard operating proceduresClinical managementRare conditionSevere formAnalysis of biomarkersPatientsMulticenter researchEpilepticusSpecific biomarkersExact causeSmall sample sizeBiospecimen collection
2021
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination
Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson‐Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E. Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. Clinical Genetics 2021, 100: 176-186. PMID: 33904160, DOI: 10.1111/cge.13973.Peer-Reviewed Original ResearchConceptsProtein kinase D1Kainate-induced seizure activityHomozygote micePeripheral nerve diseaseWild-type miceBrain hyperexcitabilityPatient's epilepsyPeripheral neuropathyNerve diseaseSeizure activityHuman epilepsyCotransporter 3Nervous systemProgressive epilepsyHeterozygote miceHuman nervous systemPKD1 variantsMiceEpilepsyInactivating variantPotential targetSignificant increaseNovel roleDiseaseLocomotor behavior