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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

dc.contributor.authorKunz, Wolfram S.
dc.contributor.authorKirschner, Janbernd
dc.contributor.authorKorinthenberg, Rudolf
dc.contributor.authorRuppert, Ann-Kathrin
dc.contributor.authorWeber, Yvonne
dc.contributor.authorBecker, Felicitas
dc.contributor.authorLerche, Holger
dc.contributor.authorElger, Christian E.
dc.contributor.authorThiele, Holger
dc.contributor.authorNuernberg, Peter
dc.contributor.authorSander, Thomas
dc.contributor.authorOzdemir, Ozkan
dc.contributor.authorHallmann, Kerstin
dc.contributor.authorZsurka, Gabor
dc.contributor.authorMoskau-Hartmann, Susanna
dc.date.accessioned2021-03-03T19:50:16Z
dc.date.available2021-03-03T19:50:16Z
dc.date.issued2014
dc.identifier.citationHallmann K., Zsurka G., Moskau-Hartmann S., Kirschner J., Korinthenberg R., Ruppert A., Ozdemir O., Weber Y., Becker F., Lerche H., et al., "A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy", NEUROLOGY, cilt.83, sa.23, ss.2183-2187, 2014
dc.identifier.issn0028-3878
dc.identifier.otherav_56a40ff4-7d87-4e02-b232-5b9f11b19bfd
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/61164
dc.identifier.urihttps://doi.org/10.1212/wnl.0000000000001055
dc.description.abstractObjective: We report a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome including severe myoclonic epilepsy, progressive spastic tetraparesis, progressive impairment of vision and hearing, as well as progressive cognitive decline.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.subjectNöroloji
dc.subjectKlinik Tıp (MED)
dc.titleA homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
dc.typeMakale
dc.relation.journalNEUROLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume83
dc.identifier.issue23
dc.identifier.startpage2183
dc.identifier.endpage2187
dc.contributor.firstauthorID218793


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