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An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy

KCNMA1-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. KCNMA1 encodes the BK K(+) channel, which contributes to both excitatory and inhibitory neuron...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Channels (Austin)
Asıl Yazarlar: Miller, Jacob P., Moldenhauer, Hans J., Keros, Sotirios, Meredith, Andrea L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Taylor & Francis 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259716/
https://ncbi.nlm.nih.gov/pubmed/34224328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2021.1938852
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