Allele‐Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model
Objective Developmental and epileptic encephalopathies (DEEs) can result from dominant,
gain of function variants of neuronal ion channels. More than 450 de novo missense variants …
gain of function variants of neuronal ion channels. More than 450 de novo missense variants …
Patients carrying pathogenic SCN8A variants with loss‐ and gain‐of‐function effects can be classified into five subgroups exhibiting varying developmental and …
Objective Phenotypic heterogeneity presents challenges in providing clinical care to patients
with pathogenic SCN8A variants, which underly a wide disease spectrum ranging from …
with pathogenic SCN8A variants, which underly a wide disease spectrum ranging from …
Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy
CE Gjerulfsen, MJ Oudin, F Furia, S Gverdtsiteli… - medRxiv, 2024 - medrxiv.org
Objectives Developmental and epileptic encephalopathies (DEEs) caused by pathogenic
variants in SCN8A are associated with difficult-to-treat and early-onset seizures …
variants in SCN8A are associated with difficult-to-treat and early-onset seizures …