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, EMRAHYEŞİL SAYIN, GÖZDEHasanoğlu, SevdeASLANGER, AYÇA DİLRUBAGöncü, Beyza2020-12-062020-12-062020-06-09YÜCESAN 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 2020http://hdl.handle.net/20.500.12645/27534Identification 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 Paper6328768