Table 1 Clinical manifestations of patients with MEDS reported to date

1

[2]

c.62T>G

(p.Val21Gly)

Severe PMD

Focal with secondary generalization and GTCS

2m

2m

Difficult

18m

2

[2]

c.233T>C

(p.Leu78Pro)

N/A

GTCS, myoclonic

2m

At birth

Difficult

27m

3

[1]

c.233T>C

(p.Leu78Pro)

Severe PMD

Tonic-clonic hemiconvulsion. Myoclonic and GTCS

Few days of life

<1wk

Difficult

5.5y

4

[1]

c.233T>C

(p.Leu78Pro)

Severe PMD

Hypomotor seizures with abnormal eye deviation, myoclonic

2m

2m

Difficult

26m

5

[1]

c.233T>C

(p.Leu78Pro)

PV/CH

Myoclonic

At birth

40d

N/A

3.5y

6

[1]

c.233T>C

(p.Leu78Pro)

Normal

Hemiclonic with occasional eye and mouth twitches. Myoclonic.

2m

2wk

N/A

N/A

7

[3]

c.62T>G

(p.Val21Gly)/

c.79delT

(Phe27fsSer*25)

Severe PMD

Tonic-clonic, myoclonic

2m

2m

Good

8y

8

[4]

c.233T>C

(p.Leu78Pro)

PV/CH

N/A

N/A

5wk

Difficult

7wk

9*

c.239T>G

(p.Leu80*)/

c.2T>A

(initiator codon)

PV/CH

Focal clonic, focal with impaired awareness. IS

2m

4m with steroid treatment

Good

N/A