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Table 1 Clinical features of affected member of SCN8A mutation in the pedigree

From: SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

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

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