Publication: 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.author | YÜCESAN, EMRAH | |
dc.date.accessioned | 2020-12-06T21:00:53Z | |
dc.date.available | 2020-12-06T21:00:53Z | |
dc.date.issued | 2020-06-09T00:00:00Z | |
dc.identifier.citation | YÜCESAN 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.uri | http://hdl.handle.net/20.500.12645/27534 | |
dc.identifier.yoksis | 6328768 | |
dc.title | 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.type | Conference Paper | |
dspace.entity.type | Publication | |
local.avesis.id | 0895af9c-5b2a-4a1a-889e-387bc933ff60 | |
local.publication.isinternational | 1 |