Table 2.

Epilepsy-associated Nav1.3 variants in the published literature.

Reference	Amino acid change	Inheritance pattern	Epilepsyage of onset	Epilepsy type	DD	MRI
Holland et al, 2008	p.Lys354Gln	Paternal	2 y	Focal	No	Normal
Vanoye et al, 2014	p.Arg357Gln	Unknown	4 y	Focal	Yes	Normal
Vanoye et al, 2014	p.Asp815Asn	Unknown	22 mo	Focal	Mild	Normal
Vanoye et al, 2014	p.Glu1160Lys	Unknown	Neonate	Focal	No	Normal
Vanoye et al, 2014	p.Met1372Val	Unknown	16 mo	FS; Focal	No	Normal
Wang et al, 2017	p.Arg621Cys	Maternal	Unkown	FS; BECTS	No	Normal
Lamar et al, 2017	p.Leu247Pro	de novo	18 mo	Focal	Yes	Normal
Trujillano et al, 2017	p.Pro1333Leu	de novo	1-3 d	Unspecified	Severe	Normal

Note that all variants are presented in relation to Nav1.3 isoform 1 (Reference Sequence NP_008853.3) FS, febrile seizures; BECTS, centrotemporal spikes on EEG.