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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8259716/ https://www.ncbi.nlm.nih.gov/pubmed/34224328 http://dx.doi.org/10.1080/19336950.2021.1938852 |