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., Goncu B. S., Aslanger A., Ozgul C., Hasanoglu S., Yesil G.

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.344-345, 2020 (SCI-Expanded) identifier

  • Publication Type: Article / Abstract
  • Volume: 28 Issue: SUPPL 1
  • Publication Date: 2020
  • Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.344-345
  • Istanbul University Affiliated: Yes