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Article ; Online: Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.

Nelson, Andrew D / Catalfio, Amanda M / Gupta, Julie P / Min, Lia / Caballero-Florán, René N / Dean, Kendall P / Elvira, Carina C / Derderian, Kimberly D / Kyoung, Henry / Sahagun, Atehsa / Sanders, Stephan J / Bender, Kevin J / Jenkins, Paul M

Neuron

2024  Volume 112, Issue 7, Page(s) 1133–1149.e6

Abstract: Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes the sodium channel ... ...

Abstract Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes the sodium channel Na
MeSH term(s) Animals ; Mice ; Ankyrins/genetics ; Ankyrins/metabolism ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Autistic Disorder/metabolism ; Dendrites/physiology ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Neocortex/metabolism ; Pyramidal Cells/physiology
Chemical Substances Ankyrins ; NAV1.2 Voltage-Gated Sodium Channel ; Scn2a protein, mouse ; Ank2 protein, mouse
Language English
Publishing date 2024-01-29
Publishing country United States
Document type Journal Article
ZDB-ID 808167-0
ISSN 1097-4199 ; 0896-6273
ISSN (online) 1097-4199
ISSN 0896-6273
DOI 10.1016/j.neuron.2024.01.003
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