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Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

SCN2A, encoding the neuronal voltage-gated Na(+) channel Na(V)1.2, is one of the most commonly affected loci linked to autism spectrum disorders (ASDs). Most ASD-associated mutations in SCN2A are loss-of-function mutations, but studies examining how such mutations affect neuronal function and whethe...

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Detalles Bibliográficos
Autores principales: Wang, Hong-Gang, Bavley, Charlotte C., Li, Anfei, Jones, Rebecca M., Hackett, Jonathan, Bayleyen, Yared, Lee, Francis S., Rajadhyaksha, Anjali M., Pitt, Geoffrey S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410058/
https://www.ncbi.nlm.nih.gov/pubmed/34156984
http://dx.doi.org/10.1172/jci.insight.150698