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dc.contributor.authorTuzun, Erdem
dc.contributor.authorBaykan, BETÜL
dc.contributor.authorGOKYIGIT, Ayşen Zehra
dc.contributor.authorGURSES, C
dc.date.accessioned2021-03-05T10:51:00Z
dc.date.available2021-03-05T10:51:00Z
dc.date.issued2000
dc.identifier.citationTuzun E., Baykan B., GURSES C., GOKYIGIT A. Z. , "Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a", SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, cilt.9, ss.469-472, 2000
dc.identifier.issn1059-1311
dc.identifier.otherav_a53c7e0b-e43e-4ebb-b998-d82db03b9022
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/110512
dc.identifier.urihttps://doi.org/10.1053/seiz.2000.0426
dc.description.abstractAmong three recognised clinical phenotypes, type 3a Gaucher's disease is characterised by mild to severe systemic disease, neurological manifestations and myoclonic seizures. We report the long term clinical and electrophysiological follow-up of a 27-year old man with a diagnosis of type 3a Gaucher's disease, which was confirmed by bone marrow biopsy examination and leukocyte glucocerebrosidase level measurement. His neurological examination was normal throughout the follow-up period. EEG examination, recorded five days after the first seizure, revealed generalised nonrhythmic paroxysmal rapid spikes with occipital predominance increased by photic stimulation and normal background activity. The frequency of seizures increased from 3-4/year to 1-2/month within a follow-up period of 12 years and a repeat EEG examination on the eight year of diagnosis revealed additional background slowing. A giant potential was obtained in somatosensory evoked potential (SEP) examination. EEG findings of this case demonstrate a specific pattern with rapid spike activity, photosensitivity, eye closure sensitivity and gradual background slowing. (C) 2000 BEA Trading Ltd.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSinirbilim ve Davranış
dc.subjectNEUROSCIENCES
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleLongterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a
dc.typeMakale
dc.relation.journalSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume9
dc.identifier.issue7
dc.identifier.startpage469
dc.identifier.endpage472
dc.contributor.firstauthorID1810


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