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Table 4 Phenotypes, treatment and outcomes of the patients with nonsense (including splice and frameshift) pathogenic variants

From: Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China

Patient number

Pathogenic variant type

Sex

Current age

Diagnosis

Seizure onset age

Initial seizure semiology (s)

Latest seizure semiology (s)

EEG manifestations

MRI findings

Previous drug (s)

Current drug (s)

Efficient drug (s)

Seizure outcome

Muscle tone

Degree of ID/GDD

P2

Splice

F

6.8y

OS evolved to WS

8d

FS

FS, TS, S

H/BS/W

N

ACTH, PRD, NZP, and LEV

VPA, TPM, and CBZ

ACTH and LEV

NSF

High

Profound

P10

Splice

F

9.6y

EOEE evolved to WS

2 m

FS

S, FS

H

N

ACTH, PRD, VPA, and NZP

None

ACTH and NZP

SF (8y)

High/Low

Profound

P11

Frameshift

M

Died (7y)

EOEE evolved to WS

1d

TS

TS, S, AAS

H/W/M

N

LEV, ACTH, PRD, VPA, TPM, and NZP

Died(7y)

LEV, ACTH and TPM

Died (7y4m)

High

Profound

P19

Nonsense

M

7.6y

OS evolved to WS

2 m

TS, FS

TS, FS, S

BS/H/M

N

TPM, VPA, VGB, and LEV

LEV and VPA

VPA, VGB and LEV

NSF

Low

Profound

  1. Abbreviations: d; days, EP; epilepsy, EOEE; early onset epileptic encephalopathy, F; female, FS; focal seizure, GDD; global developmental delay, ID; intellectual disability, M; male, m: months, OS; ohtahara syndrome, S; spasms seizure, TS; tonic seizure, TCS; tonic clonic seizure, W: widespread spike, y; years.