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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YÜCESAN E., Göncü B., ASLANGER A. D., Hasanoğlu S., YEŞİL SAYIN G.

European Human Genetics Conference, 6 - 09 June 2020

• Publication Type: Conference Paper
• Istanbul University Affiliated: Yes