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
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer Nature
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
[Abstract Not Available]
Açıklama
Anahtar Kelimeler
Dyskinesia, Corticospinal Tract Atrophy, Epilepsy, Intellectual Disability
Kaynak
European Journal of Human Genetics
WoS Q Değeri
Q2
Scopus Q Değeri
Cilt
28
Sayı
Supplement: 1
Künye
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.).
