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

European Human Genetics Conference, 6 - 09 Haziran 2020

  • Yayın Türü: Bildiri
  • İstanbul Üniversitesi Adresli: Evet