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 atropyh.


YÜCESAN E., ASLANGER A. D., ÖZGÜL C., YEŞİL SAYIN G.

European Human Genetics Virtual Conference, 6 - 09 Haziran 2020, (Özet Bildiri)

  • Yayın Türü: Bildiri / Özet Bildiri
  • İstanbul Medipol Üniversitesi Adresli: Evet