Associated Papers
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
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
Effect of fenfluramine on seizures and comorbidities in SCN8A-developmental and epileptic encephalopathy: A case series.
Aledo-Serrano Á et al.
Epilepsia Open, 2022
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
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