2022
The changing landscape in epilepsy imaging: Unmasking subtle and unique entities
Adin ME, Department of Radiology and Biomedical Imaging Y, Durand D, Zucconi W, Huttner A, Spencer D, Bronen R, Department of Radiology Abbott Northwestern Hospital M, Department of Pathology Y, Department of Neurosurgery Y. The changing landscape in epilepsy imaging: Unmasking subtle and unique entities. Diagnostic And Interventional Radiology 2022, 28: 503-515. PMID: 35997478, PMCID: PMC9682800, DOI: 10.5152/dir.2022.21339.Peer-Reviewed Original ResearchConceptsHippocampal sclerosisCortical developmentLocalization-related epilepsyTemporal lobe encephaloceleFocal cortical dysplasiaFocal cortical dysplasia IIbField of epilepsyEpileptogenic abnormalitiesAutoimmune encephalitisRasmussen's encephalitisCommon etiologyCortical dysplasiaEpilepsy surgeryEpileptogenic substrateTuberous sclerosisEpilepsy imagingHippocampal malformationsMTOR pathwayEncephalitisSclerosisMR imagingMalformationsUnique entitySurgeryEpilepsy
2014
Brainstem melanomas presenting as a cavernous malformation
Lu AY, Patel AR, Kuzmik GA, Atsina K, Bronen RA, Jabbour PM, Hasan DM, Vortmeyer AO, Welch BG, Bulsara KR. Brainstem melanomas presenting as a cavernous malformation. Neurochirurgie 2014, 60: 184-187. PMID: 24856047, DOI: 10.1016/j.neuchi.2014.02.005.Peer-Reviewed Case Reports and Technical NotesConceptsCavernous malformationsClinical courseWhole-brain radiation therapyAcute pontine hemorrhageRight dorsal midbrainWhole brain radiationAggressive clinical courseRepeat hemorrhageMelanoma presentingSurgical resectionBrainstem hemorrhagePontine hemorrhagePoor prognosisTreatment modalitiesHemorrhagic lesionsRadiation therapyDorsal midbrainStereotactic radiosurgeryMelanoma lesionsLesionsHemorrhageMelanomaMalformationsResectionBrainstem
2010
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.Peer-Reviewed Original ResearchConceptsAbnormal cortical developmentWD repeat domain 62 (WDR62) geneSevere brain malformationsWhole-exome sequencingBrain abnormalitiesBrain malformationsCortical developmentMolecular pathogenesisCerebellar hypoplasiaWDR62 mutationsEmbryonic neurogenesisDiagnostic classificationMicrocephaly genesSmall family sizeGenetic heterogeneityWide spectrumRecessive mutationsPachygyriaPathogenesisHypoplasiaNeocortexNeurogenesisAbnormalitiesMalformationsMutations
1995
MR characteristics of neoplasms and vascular malformations associated with epilepsy
Bronen R, Fulbright R, Spencer D, Spencer S, Kim J, Lange R. MR characteristics of neoplasms and vascular malformations associated with epilepsy. Magnetic Resonance Imaging 1995, 13: 1153-1162. PMID: 8750330, DOI: 10.1016/0730-725x(95)02026-p.Peer-Reviewed Original ResearchConceptsVascular malformationsCalvarial remodellingPathologic categoriesAdjacent tissuesTemporal lobe locationTypical imaging featuresMR characteristicsBlinded retrospective analysisMagnetic resonanceRefractory epilepsyPathologic findingsCortical involvementEpileptogenic substratePathologic substrateVascular lesionsImaging featuresCommon siteRetrospective analysisTemporal lobeLobe locationEpilepsyLesionsMalformationsNeoplasmsMR scans