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...

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Detalles Bibliográficos
Autores principales: Kramer, Audra A., Bennett, Daniel F., Barañano, Kristin W., Bannister, Roger A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Original Article
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

Internet

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

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