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

Goncu, BEYZAYÜCESAN, EmrahAslanger, A.Ozgul, C.Hasanoglu, S.Yesil, G.2021-02-082021-02-082020-12-01YÜCESAN E., Goncu B., Aslanger A., Ozgul C., Hasanoglu S., Yesil 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 JOURNAL OF HUMAN GENETICS, cilt.28, ss.344-345, 2020http://hdl.handle.net/20.500.12645/28367Identification 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 atrophyArticleWOS:000598482601194