Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE), 1 accounting for approximately 1% of DEEs. 2 The number of SCN8A -related phenotypes is rapidly increasing, with the inclusion of SCN8A in gene panels and the expanded use of whole exome sequencing for diagnostic assessment of patients with epilepsy syndromes. 3 Recently, it became obvious that SCN8A could cause more benign forms of epilepsy with normal cognition and treatable seizures. 4 Furthermore, rare patients with intellectual disability (ID), 5 autism spectrum disorder (ASD), 6, 7 or myoclonus/movement disorders without epilepsy have been reported. 8
« Back to Glossary IndexPathogenic SCN8A
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