Table 5.

SCN9A-related epilepsies identified in clinical patients through WES and/or NGS.

Variant	Location	Mutation	Disease	Alteration on biophysical properties or/and Clinical report	Reference
Inherited mutation
Q10R	N-terminal	Missense	GEFS+	Febrile and afebrile seizures Generalized tonic-clonic seizures	(Cen et al., 2017)
G327E	DI	Missense	Epilepsy	Generalized tonic-clonic seizure	(Yang et al., 2018)
N641Y	DI- DII	Missense	FS	Reduced electroconvulsive seizure thresholds (Knocking mice) Increased corneal kindling acquisition rates (Knocking mice) Increased current density Faster recovery from inactivation More susceptible to clonic and tonic seizures induced by electrical stimulation (mice) Enhanced persistent current	(Singh et al., 2009; Zhang S. et al., 2020)
I1901fs	C-terminal	Frameshift	Epilepsy	Generalized tonic-clonic seizure	(Yang et al., 2018)
Non genetic origin mutations reported*
K655R	DI-DII	Missense	FS	Enhanced persistent current Faster recovery from inactivation	(Zhang S. et al., 2020)
W1150R	DII-DIII	Missense	FS	Increased current density Enhanced persistent current Focal seizures with secondary generalization High-potential spike activity, paroxysmal release, and d frequency power enhancement (EEG)	(Zhang S. et al., 2020)