Table 1 Summary of PIGN, PIGA, and PIGT patients

 Patient ID

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Patient 6

Patient 7

 Current age/Sex

2 yrs./M

4 yrs. 9 mo/M

3 yrs. 6 mo/M

2 yrs. 8 mo/F

1 yrs. 7mo/M

2 yrs./M

2 yrs. 5 mo/F

 Gestation, wk

full term

full term

full term

36w

full term

full term

full term

 Birth history

normal

normal

normal

rupture of membranes

normal

normal

normal

 Seizure-onset age

3 mo

7 mo

1 yr

4 mo

9 mo

10 mo

8 mo

 Seizure type

FS

FS, PGTCS, MS

GTCS

FS; AA

FS, AA

MS, AA

FS

 Seizure prognosis

intractable

seizure-free at 3 yrs. with AEDs

intractable

intractable

intractable

intractable

intractable

 Ever used pyridoxine/effect

–

+/−

+/−

+/n.a.

+/n.a.

–

–

 Used AEDs

LEV

OXC, VPA, LEV

LEV

VPA, TPM, LEV

VPA

VPA, LEV

VPA, TPM, OXC

 Fever with seizure breakthrough

+

+

+

+

+

+

+

 Developmental delay

normal motor, severe intellectual

severe

normal motor, severe intellectual

severe

severe

moderate

moderate

Dysmorphism

 Facial

n.a.

arched palatal

nasal bridge collapse, ocular hypertelorism, nasal tip round blunt

ocular hypertelorism, nasal bridge collapse, arched palatal

binocular esotropia; nystagmus

high forehead

nasal bridge collapse

 Other organs

n.a.

perianal abscess, mild liver enlargement

umbilical hernia, increased foot wrinkles

bilateral Achilles tendon contracture, small hands and feet

–

–

–

 Hypotonia

n.a.

+

+

+

+

–

+

 Serum ALP

n.a.

normal

normal

elevated

n.a.

normal

normal

 Initial interictal EEG

normal

left frontal and central regions discharges

normal

multifocal discharges

normal

multifocal discharges

normal

 Brain MRI

enlarged ventricles, enlarged subarachnoid space

normal

enlarged subarachnoid space

enlarged ventricles, thin corpus callosum, enlarged subarachnoid space

enlarged subarachnoid space, slightly delayed myelin sheath

normal

enlarged ventricles, cerebellar vermis dysplasia

 Patient ID

Patient 8

Patient 9

Patient 10

Patient 11

Patient 12

Patient 13

Patient 14

Patient 15

 Current age/Sex

3 yrs. 10 mo/M

3 yrs. 7 mo/M

6 yrs./M

6 yrs./M

7 yrs./M

4 yrs./M

5 yrs./M

2 yrs. 9 mo/M

 Gestation, wk

full term

full term

full term

36 + 1w

n.a.

full term

n.a.

full term

 Birth history

normal

normal

normal

anoxia

meconium-stained amniotic fluid

normal

normal

normal

 Seizure-onset age

2 mo

10 mo

1 mo 28d

6 mo

7 mo

4 mo

6 mo

6 mo

 Seizure type

FS

FS, PGTCS, SE

FS, SE

FS, SE

FS, MS, absence seizure

FS, ES

FS, GTCS

FS

 Seizure prognosis

intractable

seizure-free at 1.3 yrs. with AEDs

intractable

intractable

intractable

intractable

seizure-free at 2 yrs. with AEDs

intractable

 Ever used pyridoxine/effect

–

–

+/−

+/−

–

+/−

–

–

 Used AEDs

TPM, VPA, OXC

VPA, LEV, TPM, OXC

VPA, LEV, TPM

VPA, LEV, TPM

VPA, TPM, LEV

TPM, VPA, LEV

VPA, LEV, TPM

TPM, OXC, VPA, LTG, CLB

 Fever with seizure breakthrough

+

+

–

+

+

–

+

+

 Developmental delay

severe

severe

severe

severe

severe

normal motor, severe intellectual

severe

severe

Dysmorphism

 Facial

–

ocular hypertelorism

ocular hypertelorism, nasal bridge collapse, arched palatal

arched palatal

–

–

–

n.a.

 Other organs

–

foot deformity, umbilical hernia

congenital megacolon

congenital megacolon, cafe-au-lait-spot

–

–

–

n.a.

 Hypotonia

+

+

+

+

–

–

n.a.

n.a.

 Serum ALP

n.a.

n.a.

elevated

normal

n.a.

elevated

n.a.

n.a.

 Initial interictal EEG

diffuse slow waves mixed with predominantly posterior discharges

diffuse slow waves mixed with multifocal discharges

diffuse slow waves mixed with bilateral occipital discharges

diffuse slow waves mixed with multifocal discharges

diffuse slow waves mixed with frontal discharge

hypsarrhythmia

diffuse slow waves mixed with left frontal discharge

diffuse slow waves mixed with multifocal discharges

 Brain MRI

white-matter immaturity, enlarged subarachnoid space

enlarged ventricle

enlarged subarachnoid space

enlarged subarachnoid space, deeper brain sulcus

normal

enlarged ventricles, enlarged subarachnoid space

normal

n.a.

 Patient ID

Patient 16

Patient 17

 Current age/Sex

13 yrs. 4 mo/M

1 yr/M

 Gestation, wk

full term

full term

 Birth history

normal

normal

 Seizure-onset age

3 yrs.

4 mo

 Seizure type

FS

ES, MS

 Seizure prognosis

intractable

intractable

 Ever used pyridoxine/effect

–

–

 Used AEDs

VPA, LEV

LEV, VPA, OXC

 Fever with seizure breakthrough

+

–

 Developmental delay

mild

severe

 Dysmorphism

 Facial

–

nasal bridge collapse, arched palatal, dysplastic ears

 Other organs

–

cafe-au-lait-spot

 Hypotonia

–

+

 Serum ALP

n.a.

normal

 Initial interictal EEG

left anterior and middle temporal discharges

multifocal discharges

 Brain MRI

normal

enlarged subarachnoid space