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 Human Genetics Conference, 6 - 09 Haziran 2020
- Yayın Türü: Bildiri
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır