Table 1 Genetic, MRI, clinical, cognitive and psychiatric data of PCDH19-mutation group.

From: Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

No.

Age at MRI / Sex

PCDH19 mutation cDNA/ protein

Inheritance

MRI findings

Seizure onset (months)

Seizure type (onset)

Habitual seizures

Treatment

Limbic seizures

Cognitive level

DSM5 classification

Grade of psychiatric disorder

1a

9.4 / F

c.1769T>G,

p.Val590Gly

father

None

8

Fo

Yes

VPA, ZNS, LZM, OLA, CLOR

Yes

Moderate ID

ODD, CD, OCD

Severe

2a

9.4 / F

c.1769T>G,

p.Val590Gly

father

None

6

Fo

Yes

VPA, ZNS, RIS, AL

Yes

Moderate ID

ODD, CD, OCD

Severe

3

12.0 / F

c.688 G > T,

p.Asp230Tyr

de novo

Hyperintensity in body of L hippocampus

16

Fo

Yes

CBZ

No

Normal

None

None

4

13.6 / F

exon 1 + upstream deletion,

n.a.

de novo

None

14

Fo

No

VPA, CLB

No

Normal

DD, AD, ADHD, CD

Moderate

5

2.3 / M

c.1020 T > A,

p.Asn340Lys mosaic

de novo

None

5

Fo

Yes

PHT, PB, CLB

No

Mild ID

None

None

6

3.4 / F

c.2338 A > T,

p.Lys780*

de novo

None

24

Fo

Yes

CBZ

No

Normal

ODD, CD, IED

Severe

7b

18.9 / F

c.242 T > G,

p.Leu81Arg

de novo

None

6

Fo

No

LCM, CLB, FC, CLOT

Yes

Severe ID

ASD, CD

Moderate

8b

18.9 / F

c.242 T > G,

p.Leu81Arg

de novo

None

6

Fo

Yes

LCM, CLB, FC, CLOT

Yes

Severe ID

ASD, CD

Moderate

9

11.1 / F

c.465 T > A,

p.Asp155Glu

de novo

None

4

Fo

Yes

N.A.

N.A.

Severe ID

N.A.

N.A.

10a

20.6 / F

c.1300_1301delCA,

p.Gln434Glufs*11

de novo

Incomplete inversion of L hippocampus

14

Fo

Yes

VPA, TPM, CLB

Yes

Moderate ID

ODD, OCD

Moderate

11

23.7 / F

c.1019 A > G,

p.Asn340Ser

mother

None

6

Fo

Yes

VPA, TPM, DEL

Yes

Mild ID

ODD, CD, AtD

Mild

12

17.8 / F

c.1129 G > C,

p.Asp377His

de novo

None

8

Fo

No

STP, CLB, VPA, RIS

No

Moderate ID

ASD

Severe

13

16.8 / F

c.2676-6 A > G,

n.a.

de novo

None

7

Fo

Yes

STP, CLB, VPA, RIS

No

Moderate ID

ASD, IED, CD

Severe

14

7.6 / M

c.1352 C > T,

p. Pro451Leu mosaic

de novo

None

10

T

No

STP, VAP, CLB

Yes

Normal

SCD, AtD

Moderate

15

22.5 / F

c.1973T>G,

p.Val658Gly

mother

Hypotrophy of cerebellar vermis, anterior cerebellum

5

Fo

Yes

STP, VPA, PER, CNZ

No

Mild ID

ASD, IED, CD

Mild

16a

44.3 / F

c.706 C > T,

p.Pro236Ser

de novo

None

10

Fo

No

None

Yes

Moderate ID

ASD

Mild

17

8.0 / F

c.1098 C > G,

p.Tyr366*

de novo

None

11

Fo

No

VPA, LEV

No

Mild ID

ASD

Moderate

18

9.2 / F

c.1178 C > T,

p.Pro393Leu

de novo

None

20

Fo

Yes

VPA

No

Mild ID

ASD, AtD

Mild

19

16.2 / F

c.958dupG,

p.Asp320Glyfs*22

de novo

None

28

TC

No

LEV, CBZ

Yes

Normal

None

None

20

26.3 / F

c.1298 T > C,

p.Leu433Pro

de novo

None

8

Fo

No

VPA, CBZ

Yes

Normal

OCD

Mild

  1. Cognitive level was classified as (0) “normal”, (1) “mild ID”, (2) “moderate ID” or (3) “severe ID”. The severity of psychiatric comorbidities was classified on an empirical basis as (0) “None”, (1) “Mild”, (2) “Moderate” and (3) “Severe”, considering a severity range spanning from the ‘mild’ category (1) where the psychiatric disorder would cause minimum functional impairment and the symptoms would be considered mild, to the ‘severe’ category (3) where there would be significant functional individual and social disruption and the symptoms would be considered severe or very severe. Abbreviations: y years, a 1st twin pair, b 2nd twin pair, M male, F female, L left, N.A. not available, Fo focal, T tonic, TC tonic-clonic, A absences, ASM anti-seizure medications, AL alprazolam, CBZ carbamazepine, CLOR clorpromazina, CLOT clotiapina, CNZ clonazepam, DEF deflazacort, DEL delorazepam, FC fluoxetina Cloridrato, LCM lacosamide, LEV levetiracetam, LZM lorazepam, OLA olanzapina, PB phenobarbital, PER perampanel, PHT phenytoin, RIS risperidone, STP stiripentol, TMP topiramate, VPA valproic acid (valproate), ZNS zonisamide, ID intellectual disability, DSM5 Diagnostic and Statistical Manual of Mental disorders, 5th edition [26], DSM5 classification: ODD oppositional defiant disorder, CD conduct disorder, OCD obsessive compulsive disorder, DD depressive disorder, AD anxiety disorder, ADHD attention deficit and hyperactivity disorder, IED intermittent explosive disorder, ASD autism spectrum disorder, AtD attention deficit; aexcluded from the hippocampal analysis.
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