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

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dc.authorid0000-0001-9403-2844
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.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)
dc.description.abstract[Abstract Not Available]
dc.description.sponsorshipBezmialem Vakif Universityen_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.).
dc.identifier.endpage345
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.issueSupplement: 1
dc.identifier.startpage344
dc.identifier.urihttps://hdl.handle.net/20.500.12511/6329
dc.identifier.volume28
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherSpringer Nature
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectDyskinesia
dc.subjectCorticospinal Tract Atrophy
dc.subjectEpilepsy
dc.subjectIntellectual Disability
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 atrophy
dc.typeConference Object

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