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Voltage-gated sodium channels are composed of one pore-forming α subunit and one or two auxiliary β subunits. So far, nine voltage-gated sodium channel α-subunits (Nav1.1–Nav1.9) have been identified [1]. Among them, Nav1.6 is encoded by the SCN8A gene, and widely expressed in the projection neurons of the cerebral cortex, hippocampus, and cerebellum [2]. In general, pathogenic variants (PVs) in SCN8A associated with early onset epileptic encephalopathy are de novo missense variants, and electrophysiological studies of such PVs typically reveal ‘gain of function’ leading to enhanced sodium current [3]. Since the first report of SCN8A-related epilepsy in 2012, more than 100 cases have been reported. SCN8A PVs mostly causes early onset epileptic encephalopathy type 13, which presents with infantile onset epilepsy accompanied with developmental delay and cognitive impairment [1]. However, recent reports have demonstrated that missense PVs in SCN8A present with mild phenotypes [1,2,4]. A 6-month-old male infant was admitted to the emergency department at Ulsan University Hospital due to seizure. Until the day before admission, the infant was healthy with no history of medication, head trauma, or recent immunization. Upon arrival at the emergency department, the patient’s seizure had already ceased. His body Letter to the editor

De Novo SCN8A Pathogenic Variant (c.5630A&gt;G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype

De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype