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