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A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele
P/Q-type Ca(2+) flux into nerve terminals via Ca(V)2.1 channels is essential for neurotransmitter release at neuromuscular junctions and nearly all central synapses. Mutations in CACNA1A, the gene encoding Ca(V)2.1, cause a spectrum of pediatric neurological disorders. We have identified a patient h...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020665/ https://www.ncbi.nlm.nih.gov/pubmed/36938367 http://dx.doi.org/10.1016/j.ensci.2023.100456 |