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Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

dc.contributor.authorPearl, PL
dc.contributor.authorSalomons, GS
dc.contributor.authorDervent, A
dc.contributor.authorGibson, KM
dc.contributor.authorYalcinkaya, Cengiz
dc.contributor.authorJakobs, C
dc.date.accessioned2021-03-05T09:39:41Z
dc.date.available2021-03-05T09:39:41Z
dc.date.issued2004
dc.identifier.citationDervent A., Gibson K., Pearl P., Salomons G., Jakobs C., Yalcinkaya C., "Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency", CLINICAL NEUROPHYSIOLOGY, cilt.115, ss.1417-1422, 2004
dc.identifier.issn1388-2457
dc.identifier.otherav_9ee9c033-1a03-4e79-ab6a-c7f2c0de4f3f
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/106719
dc.identifier.urihttps://doi.org/10.1016/j.clinph.2004.01.002
dc.description.abstractObjective: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disorder characterized by excessive GABA levels and seizures. There has been no clinical phenotype described to date with heterozygosity for SSADH deficiency.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectKlinik Tıp (MED)
dc.subjectKLİNİK NEUROLOJİ
dc.subjectNEUROSCIENCES
dc.subjectSinirbilim ve Davranış
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp
dc.titlePhotosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
dc.typeMakale
dc.relation.journalCLINICAL NEUROPHYSIOLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume115
dc.identifier.issue6
dc.identifier.startpage1417
dc.identifier.endpage1422
dc.contributor.firstauthorID23033


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