Table 2.

Phenotypic variability in patients with the p.Arg1617Gln mutation in SCN8A.

Patient	Age of onset	Seizure type	Developmental progression	EEG	Drug response	Reference
1	3 months	Febrile seizures, tonic–clonic	Sat, crawled 24 months	Normal at 3 months	CBZ temp. effective	(23)
2	5.5 months	Generalized tonic–clonic, tonic, clonic, myoclonic, atypical absence	Hypotonia, wheelchair-bound, no speech, SUDEP at 3 years	Bilateral delta slowing and left temporal spikes and/or slow waves	Refractory	(25)
3	6 months	Generalized tonic	Head control 7 months., sat 12 months	Normal at 11 months, spike and spike–wave complexes in left rolandic at 3 years	OXC effective	(53)
4	7 months	Generalized tonic–clonic	Spasticity, sat 8 months, walked 17 months, speech 24 months	Not described	No details	(16)
5	12 months	Generalized tonic–clonic	Not described	Suggested anterior midline-frontal onset	Refractory	(21)