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
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2020Author
Yücesan, EmrahGoncu, Beyza
Aslanger, Ayça Dilruba
Özgül, Cemil
Hasanoğlu, Sevde
Yeşil, Gözde
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Yücesan, 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.).Abstract
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European Journal of Human GeneticsVolume
28Issue
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