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
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders.
Smelser K et al.
Epilepsia, 2025
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Sun Y et al.
Epilepsia Open, 2025
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry.
Furia F et al.
Epilepsia, 2025
Structure and function of voltage-gated sodium channel Nav1.6: Involvement in the pathological process of neural injury.
Wang H et al.
Neural Regeneration Research, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Deciphering the Natural History of SCN8A-Related Disorders.
Magielski JH et al.
Neurology, 2025
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
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
Dong R et al.
Journal of Human Genetics, 2024
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.
Garcia-Uzquiano R et al.
Epilepsia Open, 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
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M et al.
Bmc Neurology, 2024
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
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2023
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M et al.
Research Square, 2023
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Millevert C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.
Charzewska A et al.
International Journal of Molecular Sciences, 2023