Associated Papers
Loss of cyclin-dependent kinase-like 5 results in susceptibility to audiogenic seizures in mice.
Higgins J et al.
Epilepsia Open, 2026
Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy.
Anne MNK et al.
Neurobiology of Disease, 2026
A hit for base editing: treatment of developmental epilepsy in a mouse model.
Hill SF et al.
The Journal of Clinical Investigation, 2026
De novo design of a peptide modulator to reverse sodium channel dysfunction linked to cardiac arrhythmias and epilepsy.
Mahling R et al.
Cell, 2025
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Persistent Na+ current couples spreading depolarization to seizures in Scn8a gain-of-function mice.
Aiba I et al.
Brain : a Journal of Neurology, 2025
Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.
Gyamfi A et al.
Biomedicines, 2025
FGF14 Peptide Derivative Differentially Regulates Nav1.2 and Nav1.6 Function.
Arman P et al.
Life (basel, Switzerland), 2025
Persistent Na+ current couples spreading depolarization to seizures in Scn8a gain of function mice.
Aiba I et al.
Biorxiv : the Preprint Server for Biology, 2024
Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.
Rusina E et al.
Journal of Neurochemistry, 2024
Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.
Yu W et al.
Annals of Neurology, 2024
Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.
Shabani K et al.
Cells, 2024
Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy.
Miralles RM et al.
Jci Insight, 2024
The contribution of NaV1.6 to the efficacy of voltage-gated sodium channel inhibitors in wild type and NaV1.6 gain-of-function (GOF) mouse seizure control.
Johnson JP et al.
British Journal of Pharmacology, 2024
Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
Yu W et al.
Neurobiology of Disease, 2024
Molecular and cellular context influences SCN8A variant function.
Vanoye CG et al.
Jci Insight, 2024
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.
Hack JB et al.
Biology Open, 2024
Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.
Hill SF et al.
Annals of Neurology, 2024
Parvalbumin Interneuron Impairment Leads to Synaptic Transmission Deficits and Seizures in SCN8A Epileptic Encephalopathy.
Miralles RM et al.
Biorxiv : the Preprint Server for Biology, 2024
Carvedilol increases seizure resistance in a mouse model of SCN8A-derived epilepsy.
Wong JC et al.
Frontiers in Pharmacology, 2024
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2023
A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report.
Bouzroud W et al.
The Journal of International Medical Research, 2023