Table 1.

Clinical features of affected member of SCN8A mutation in the pedigree

Patient	Gender	Age (death)	Age of onset	Seizure type	Motor development	Cognitive outcome	EEG (age)	Respond to AEDs
I-2	F	61y	<5 y	Febrile convulsion evolved into afebrile seizure during school-age	Normal	Normal	–	Seizures free from 11 y with PHT
II-2	F	35y	3 y	Febrile convulsion evolved into afebrile seizure after 10 y	Normal	Normal	–	Controlled by CBZ, no seizures for more than 5 y to date
II-3	F	(17y)	<1 y	Focal seizure	regressed	regressed	–	Not controlled by CBZ
II-4	F	27 y	Preschool period	Focal seizure	Normal	Normal	–	Untreated, seizures resolved
III-4	F	6y, 9 mo	6 m	Focal seizure	Normal	Normal	Normal (6 m)	Seizures free from 1-year-old with VPA
III-5	F	2 y, 9 mo	6 m	Focal seizure	Normal	Normal	–	No seizures after 1 years old with VPA

m months, y years, F female, PHT phenytoin, VPA valproic acid, CBZ carbamazepine