Associated Papers
Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.
Maalej M et al.
Journal of Molecular Neuroscience : Mn, 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
Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.
Reever CM et al.
The Journal of Clinical Investigation, 2026
From Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.
Dinoi G et al.
International Journal of Molecular Sciences, 2025
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.
Dame HB et al.
Biorxiv : the Preprint Server for Biology, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Deciphering the Natural History of SCN8A-Related Disorders.
Magielski JH et al.
Neurology, 2025
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
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies.
Quilón PG et al.
Cns Neuroscience & Therapeutics, 2024
Patients carrying pathogenic SCN8A variants with loss- and gain-of-function effects can be classified into five subgroups exhibiting varying developmental and epileptic components of encephalopathy.
Hack JB et al.
Epilepsia, 2024
Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy.
Miralles RM et al.
Jci Insight, 2024
Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
Yu W et al.
Neurobiology of Disease, 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
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
Chung KM et al.
Epilepsia, 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
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
Jia A et al.
Pharmacogenomics and Personalized Medicine, 2023
Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy.
Hill SF et al.
Frontiers in Neuroscience, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.
Guo QB et al.
Acta Pharmacologica Sinica, 2022
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.
Balestrini S et al.
Drugs - Real World Outcomes, 2022
Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.
Peng BW et al.
Brain : a Journal of Neurology, 2022
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats.
Johnson JP et al.
Elife, 2022
Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy.
Yu W et al.
Hgg Advances, 2022
All our knowledge begins with the antisenses.
Goldberg EM
The Journal of Clinical Investigation, 2021
Somatostatin-Positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy.
Wengert ER et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
Wong JC et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2021
Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology.
Carvill GL et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.
Yu W et al.
Human Molecular Genetics, 2021
Postictal Death Is Associated with Tonic Phase Apnea in a Mouse Model of Sudden Unexpected Death in Epilepsy.
Wenker IC et al.
Annals of Neurology, 2021
SCN8A Encephalopathy: Case Report and Literature Review.
Fan HC et al.
Neurology International, 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH et al.
Nature Reviews. Neuroscience, 2021