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
Epileptic seizures (of any type)
Trigger: Exercise
Athetosis
Attacks – bilateral
Show more (+2)
n.a.
p.Ser95Ile: het
No
♀
C
BEL
7
30
Yes
Dystonia
Chorea
Epileptic seizures (of any type)
Trigger: Stress
Attacks – bilateral
Trigger: Prolonged fasting
Athetosis
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
Dystonia
Trigger: Exercise
Athetosis
Attacks – bilateral
Chorea
Show more (+2)
n.a.
p.Ser95Ile: het
Yes
♀
C
BEL
5
23
Yes
Athetosis
Epileptic seizures (of any type)
Speech disturbance
Ataxia
Attacks – bilateral
Trigger: Exercise
Dystonia
Chorea
Show more (+5)
n.a.
No
♀
C
BEL
6
15
Yes
Attacks – bilateral
Athetosis
Epileptic seizures (of any type)
Dystonia
Trigger: Exercise
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
Dystonia
Trigger: Sleep deprivation
Myoclonus
Attacks – bilateral
Epileptic seizures (of any type)
Trigger: Prolonged fasting
Show more (+4)
n.a.
No
♂
C
BEL
10
47
Yes
Athetosis
Chorea
Attacks – bilateral
Trigger: Exercise
Epileptic seizures (of any type)
Show more (+2)
n.a.
p.Ser95Ile: het
No
♀
C
BEL
6
7
Yes
Attacks – bilateral
Chorea
Epileptic seizures (of any type)
Athetosis
Trigger: Stress
Show more (+2)
n.a.
p.Ser95Ile: het