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
2011
Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.Peer-Reviewed Original Research
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
2004
Long-term outcome after epilepsy surgery for focal cortical dysplasia.
Cohen-Gadol AA, Ozduman K, Bronen RA, Kim JH, Spencer DD. Long-term outcome after epilepsy surgery for focal cortical dysplasia. Journal Of Neurosurgery 2004, 101: 55-65. PMID: 15255252, DOI: 10.3171/jns.2004.101.1.0055.Peer-Reviewed Original ResearchConceptsFocal cortical dysplasiaImproved seizure outcomeLong-term outcomesCortical dysplasiaClear marginsEpileptogenic zoneSeizure outcomeMean ageMean durationRisk factorsCortical developmentIntracranial monitoringObvious risk factorsRare disabling seizuresTransient sensorimotor deficitsMultiple subpial transectionsSubgroup of patientsExtent of resectionVisual field defectsInclusion of patientsNormal functional anatomyReports of outcomesMagnetic resonance imagingFunctional MR imagingPartial lesionectomy