Table 1 Clinical presentation of the Japanese family including multiple patients.

From: A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models

ID

Age of onset (years)

Diagnosis

Clinician-rated dimensions of psychosis symptom severity

GAF

Medications

Other

ICD-10

DSM-5

I

II

III

IV

V

I-9

47

F20.00

295.90

2

2

3

1

3

45

HPDa

–

II-3

21

F20.00

295.90

3

3

4

1

4

15

HPD, ZTN, CHP, OLZ, QUE, RIS

TRS

II-5

34

F20.04

295.90

3

2

2

1

3

45

RIS*, OLZ, QUE

–

II-12

18

F20.00

295.90

2

2

2

0

3

45

HPD*, OLZ, QUE, RIS

–

II-17

17

F20.10

295.90

3

3

4

2

4

15

HPD, OLZ, QUE, RIS

TRS

III-2

17

F20.10

295.90

1

1

3

1

4

35

–

No consent for drug treatment

III-3

30

F20.01

295.90

2

2

1

0

2

65

OLZa

–

  1. Diagnosis: ICD-10: International Statistical Classification of Diseases and Related Health Problems, 10th edition, DSM-5: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition; F20.00: paranoid schizophrenia, continuous; F20.01: paranoid schizophrenia, episodic with progressive defect; F20.04: paranoid schizophrenia, incomplete remission; F20.10: hebephrenic schizophrenia, continuous; 295.90: schizophrenia. Clinician-Rated Dimensions of Psychosis Symptom Severity: I: hallucinations, II: delusions, III: disorganised speech, IV: abnormal psychomotor behaviour, V: negative symptoms. GAF: Global Assessment of Functioning Scale. Medications: HPD: haloperidol, ZTN: zotepine, CHP: chlorpromazine, OLZ: olanzapine, QUE: quetiapine, RIS: risperidone. Other: TRS: treatment-resistant schizophrenia.
  2. aDrugs that improved the GAF scale over 40.
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