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Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

dc.contributor.authorYücesan, Emrah
dc.contributor.authorGoncu, Beyza
dc.contributor.authorAslanger, Ayça Dilruba
dc.contributor.authorÖzgül, Cemil
dc.contributor.authorHasanoğlu, Sevde
dc.contributor.authorYeşil, Gözde
dc.date.accessioned2021-01-21T07:12:09Z
dc.date.available2021-01-21T07:12:09Z
dc.date.issued2020en_US
dc.identifier.citationYücesan, E., Goncu, B., Aslanger, A. D., Özgül, C., Hasanoğlu, S. ve Yeşil, G. (2020). Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy. European Journal of Human Genetics içinde (344-345. ss.).en_US
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.urihttps://hdl.handle.net/20.500.12511/6329
dc.description.abstract...en_US
dc.description.sponsorshipBezmialem Vakif Universityen_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDyskinesiaen_US
dc.subjectCorticospinal Tract Atrophyen_US
dc.subjectEpilepsyen_US
dc.subjectIntellectual Disabilityen_US
dc.titleIdentification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophyen_US
dc.typeconferenceObjecten_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)en_US
dc.authorid0000-0001-9403-2844en_US
dc.identifier.volume28en_US
dc.identifier.issueSupplement: 1en_US
dc.identifier.startpage344en_US
dc.identifier.endpage345en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.identifier.wosqualityQ2en_US


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