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  1. Article ; Online: Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD.

    Wang, Chenyu / Derderian, Kimberly D / Hamada, Elizabeth / Zhou, Xujia / Nelson, Andrew D / Kyoung, Henry / Ahituv, Nadav / Bouvier, Guy / Bender, Kevin J

    Neuron

    2024  Volume 112, Issue 9, Page(s) 1444–1455.e5

    Abstract: Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly ... ...

    Abstract Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly to the negative aspects of the disorder. Here, we identify a mechanism that underlies hypersensitivity in a sensorimotor reflex found to be altered in humans and in mice with loss of function in the ASD risk-factor gene SCN2A. The cerebellum-dependent vestibulo-ocular reflex (VOR), which helps maintain one's gaze during movement, was hypersensitized due to deficits in cerebellar synaptic plasticity. Heterozygous loss of SCN2A-encoded Na
    MeSH term(s) Animals ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; NAV1.2 Voltage-Gated Sodium Channel/metabolism ; Mice ; Neuronal Plasticity/physiology ; Cerebellum/metabolism ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Humans ; Reflex, Vestibulo-Ocular/physiology ; Male ; Purkinje Cells/metabolism ; Mice, Inbred C57BL
    Chemical Substances NAV1.2 Voltage-Gated Sodium Channel ; Scn2a protein, mouse ; SCN2A protein, human
    Language English
    Publishing date 2024-02-26
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2024.01.029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2496: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 92: Show issues

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  2. Article: Impaired cerebellar plasticity hypersensitizes sensory reflexes in

    Wang, Chenyu / Derderian, Kimberly D / Hamada, Elizabeth / Zhou, Xujia / Nelson, Andrew D / Kyoung, Henry / Ahituv, Nadav / Bouvier, Guy / Bender, Kevin J

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity, or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly ... ...

    Abstract Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity, or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly to the negative aspects of the disorder. Here, we identify the mechanisms that underlie hypersensitivity in a sensorimotor reflex found to be altered in humans and in mice with loss-of-function in the ASD risk-factor gene
    Language English
    Publishing date 2023-06-07
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.06.05.543814
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. 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
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2496: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 92: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Paradoxical hyperexcitability from Na

    Spratt, Perry W E / Alexander, Ryan P D / Ben-Shalom, Roy / Sahagun, Atehsa / Kyoung, Henry / Keeshen, Caroline M / Sanders, Stephan J / Bender, Kevin J

    Cell reports

    2021  Volume 36, Issue 5, Page(s) 109483

    Abstract: Loss-of-function variants in the gene SCN2A, which encodes the sodium channel ... ...

    Abstract Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na
    MeSH term(s) Action Potentials ; Animals ; Dendrites/metabolism ; Gene Deletion ; Mice, Inbred C57BL ; Mice, Knockout ; NAV1.2 Voltage-Gated Sodium Channel/metabolism ; Neocortex/cytology ; Pyramidal Cells/metabolism ; Mice
    Chemical Substances NAV1.2 Voltage-Gated Sodium Channel
    Language English
    Publishing date 2021-08-04
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2021.109483
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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