Table 1 Overview of reported cases with GABRG2(A106T) mutations.

From: A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

Patient No

1 [19]

2 [19]

3 [28]

4 [28]

5 [28]

6 [28]

7 [29]

8 [29]

9 [50]

Sex

Female

Male

Female

Male

Female

Female

Female

Female

Female

Age at seizure onset

Day 1

3 months

4 months

6 weeks

Day 1

Day 2

Day 40

Day 2

 

Seizure types

GTCS,tonic, FS

Tonic, FS, atonic

GTCS, atonic

GTCS, FS

GTCS, FS, myoclonic

GTCS, FS, myoclonic

FS

FS; GTCS, SE

 

AED responses

LEV

No clear response

No clear response

No clear response

Pyridoxine OXC

LEV; OXC

VPA; OXC

TPM; LEV

No clear response

Seizure Outcomes

Seizure-free

Intractable

Intractable

Intractable

Intractable

Seizure-free

Seizure-free

Seizure-free

Intractable

MRI findings

Delayed myelination

Volume loss

Normal

Normal

Normal

Normal

Cortex dysplasia, delayed myelination

Normal

 

Visual impairment

No

No

Yes

No

Yes

Yes

No

No

 

Development

Delay

Delay

Delay

Delay

Delay

Delay

Delay

Delay

 
  1. Underlining indicates treatment with clinical response.
  2. GTCS generalized tonic-clonic seizure, FS focal seizure, SE status epilepticus, LEV levetiracetam, VPA valproic acid, TPM topiramate, OXC oxcarbazepine.