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

• Published in: JCI Insight Vol. 6; no. 15
• Main Authors: Wang, Hong-Gang, Bavley, Charlotte C., Li, Anfei, Jones, Rebecca M., Hackett, Jonathan E., Bayleyen, Yared, Lee, Francis S., Rajadhyaksha, Anjali M., Pitt, Geoffrey S.
• Format: Journal Article
• Language: English
• Published: United States American Society for Clinical Investigation 09.08.2021; American Society for Clinical investigation
• Subjects: Animal Communication; Animals; Autism Spectrum Disorder; Autism Spectrum Disorder - genetics; Autism Spectrum Disorder - psychology; Behavior, Animal; Behavior, Animal - physiology; Brain; Brain - pathology; Cells, Cultured; Correlation of Data; Disease Models, Animal; Gene Expression Regulation; Loss of Function Mutation; Medicine; Mice; NAV1.2 Voltage-Gated Sodium Channel; NAV1.2 Voltage-Gated Sodium Channel - genetics; Neurons; Neurons - metabolism; Neuroscience; R; Mouse models; Neuroscience; Ion channels

SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, 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 whether Sc...