Suls, 2008: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
BEL
30
43
Yes
Chorea
Attacks – bilateral
Trigger: Exercise
Epileptic seizures (of any type)
Athetosis
Show more (+2)
n.a.
p.Ser95Ile: het
No
C
BEL
7
30
Yes
Attacks – bilateral
Chorea
Epileptic seizures (of any type)
Trigger: Stress
Athetosis
Trigger: Prolonged fasting
Dystonia
Trigger: Exercise
Show more (+5)
n.a.
p.Ser95Ile: het
No
C
BEL
n.a.
34
Yes
n.a.
n.a.
p.Ser95Ile: het
No
C
BEL
8
34
Yes
Chorea
Dystonia
Attacks – bilateral
Trigger: Exercise
Athetosis
Show more (+2)
n.a.
p.Ser95Ile: het
Yes
C
BEL
5
23
Yes
Trigger: Exercise
Ataxia
Chorea
Athetosis
Epileptic seizures (of any type)
Speech disturbance
Attacks – bilateral
Dystonia
Show more (+5)
n.a.
No
C
BEL
6
15
Yes
Athetosis
Trigger: Exercise
Attacks – bilateral
Dystonia
Epileptic seizures (of any type)
Chorea
Show more (+3)
n.a.
p.Ser95Ile: het
No
C
BEL
8
50
Yes
Athetosis
Attacks – bilateral
Chorea
Trigger: Exercise
Show more (+1)
n.a.
p.Ser95Ile: het
Yes
JA
n.a.
10
22
No
Trigger: Exercise
Trigger: Sleep deprivation
Epileptic seizures (of any type)
Dystonia
Attacks – bilateral
Myoclonus
Trigger: Prolonged fasting
Show more (+4)
n.a.
No
C
BEL
10
47
Yes
Trigger: Exercise
Attacks – bilateral
Epileptic seizures (of any type)
Chorea
Athetosis
Show more (+2)
n.a.
p.Ser95Ile: het
No
C
BEL
6
7
Yes
Attacks – bilateral
Trigger: Stress
Epileptic seizures (of any type)
Athetosis
Chorea
Show more (+2)
n.a.
p.Ser95Ile: het