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

Yücesan, EmrahGoncu, BeyzaAslanger, Ayça DilrubaÖzgül, CemilHasanoğlu, SevdeYeşil, Gözde2021-01-212021-01-212020Yücesan, 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.).1018-48131476-5438https://hdl.handle.net/20.500.12511/6329[Abstract Not Available]eninfo:eu-repo/semantics/closedAccessDyskinesiaCorticospinal Tract AtrophyEpilepsyIntellectual DisabilityIdentification 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 atrophyConference Object28Supplement: 1344345Q2