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The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents
KEY POINTS: Loss‐of‐function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man. It was recently proposed that the receptors responsible are presynaptic homomeric GlyRs, rat...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649747/ https://www.ncbi.nlm.nih.gov/pubmed/32445491 http://dx.doi.org/10.1113/JP279803 |