Search Results - "Miralles, Raquel M"
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Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy
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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Somatostatin-Positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy
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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It Takes Two to Tango: Channel Interplay Leads to Paradoxical Hyperexcitability in a Loss-of-Function Epilepsy Variant
Published in Epilepsy currents (01-02-2022)Get full text
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Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy
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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