Search Results - "Miralles, Raquel M"

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    Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy by Thompson, Jeremy A., Miralles, Raquel M., Wengert, Eric R., Wagley, Pravin K., Yu, Wenxi, Wenker, Ian C., Patel, Manoj K.

    Published in Epilepsia open (01-06-2022)
    “…Objective SCN8A epileptic encephalopathy is caused predominantly by de novo gain‐of‐function mutations in the voltage‐gated sodium channel Nav1.6. The disorder…”
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    Journal Article
  2. 2

    Somatostatin-Positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy by Wengert, Eric R, Miralles, Raquel M, Wedgwood, Kyle C A, Wagley, Pravin K, Strohm, Samantha M, Panchal, Payal S, Idrissi, Abrar Majidi, Wenker, Ian C, Thompson, Jeremy A, Gaykema, Ronald P, Patel, Manoj K

    Published in The Journal of neuroscience (03-11-2021)
    “…epileptic encephalopathy is a devastating epilepsy syndrome caused by mutant , which encodes the voltage-gated sodium channel Na 1.6. To date, it is unclear if…”
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    Journal Article
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    Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy by Miralles, Raquel M, Boscia, Alexis R, Kittur, Shrinidhi, Hanflink, Jessica C, Panchal, Payal S, Yorek, Matthew S, Deutsch, Tyler C J, Reever, Caeley M, Vundela, Shreya R, Wengert, Eric R, Patel, Manoj K

    Published in JCI insight (22-10-2024)
    “…SCN8A developmental and epileptic encephalopathy (DEE) is a severe epilepsy syndrome resulting from mutations in the voltage-gated sodium channel Nav1.6,…”
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    Journal Article