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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.authorASLANGER, AYÇA DİLRUBA
dc.contributor.authorYÜCESAN, EMRAH
dc.contributor.authorGöncü, Beyza
dc.contributor.authorHasanoğlu, Sevde
dc.contributor.authorYEŞİL SAYIN, GÖZDE
dc.date.accessioned2023-02-21T07:33:25Z
dc.date.available2023-02-21T07:33:25Z
dc.identifier.citationYÜCESAN E., Göncü B., ASLANGER A. D., Hasanoğlu S., YEŞİL SAYIN G., "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 Human Genetics Conference, 6 - 09 Haziran 2020
dc.identifier.othervv_1032021
dc.identifier.otherav_0895af9c-5b2a-4a1a-889e-387bc933ff60
dc.identifier.urihttp://hdl.handle.net/20.500.12627/185908
dc.language.isoeng
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.typeBildiri
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , Nörolojik Bilimler Enstitüsü , Sinirbilimi Anabilim Dalı
dc.contributor.firstauthorID4245825


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