Circuits, Cognition & Behavior


Many genes implicated in autism encode proteins at synapses, the connections between neurons. These proteins include the neuroligin-neurexin complex and the PSD95-SAPAP-SHANK complex at synapses that release the neurotransmitter glutamate[ref]Ting J.T. et al. Ann. Rev. Neurosci. 35, 49-71 (2012) PubMed[/ref].

Dysfunction in SCN2A, which encodes the neuronal sodium channel NaV1.2, is strongly linked to autism spectrum disorder (ASD). Building on the recent finding that multiple ASD-associated mutations in SCN2A dampen or eliminate NaV1.2 channel function, the Bender Lab is now exploring how loss of SCN2A function affects developing and mature neuronal networks in mouse models.

Portera-Cailliau and O’Donnell will study neural responses to tactile stimuli in fragile X syndrome mice to test whether sensory representations are varying and unstable over time.

Ginty will define the mechanisms of aberrant touch sensitivity in mouse models of ASD and in individuals with ASD, and will translate these findings into possible therapeutics.
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