Associated Papers
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
38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Denis J et al.
Epilepsia, 2019
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang SS et al.
Frontiers in Neurology, 2019
A relatively mild phenotype associated with mutation of SCN8A.
Bagnasco I et al.
Seizure, 2018
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
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