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
Epilepsia. 2024 Nov;65(11):3324-3334. doi: 10.1111/epi.18118. Epub 2024 Sep 18. ABSTRACT OBJECTIVE: Phenotypic heterogeneity presents challenges in providing clinical care to patients with pathogenic SCN8A variants, …