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
|
Trigger: Exercise
Athetosis Epileptic seizures (of any type) Chorea Attacks – bilateral Show more (+2) |
n.a.
|
|
No
|
♀
|
C
|
BEL
|
7
|
30
|
Yes
|
Dystonia
Trigger: Exercise Trigger: Prolonged fasting Chorea Attacks – bilateral Athetosis Epileptic seizures (of any type) Trigger: Stress Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
BEL
|
n.a.
|
34
|
Yes
|
n.a.
|
n.a.
|
|
No
|
♀
|
C
|
BEL
|
8
|
34
|
Yes
|
n.a.
|
||
Yes
|
♀
|
C
|
BEL
|
5
|
23
|
Yes
|
Ataxia
Attacks – bilateral Dystonia Chorea Epileptic seizures (of any type) Speech disturbance Athetosis Trigger: Exercise Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
BEL
|
6
|
15
|
Yes
|
Chorea
Attacks – bilateral Athetosis Dystonia Epileptic seizures (of any type) Trigger: Exercise Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
BEL
|
8
|
50
|
Yes
|
n.a.
|
||
Yes
|
♀
|
JA
|
n.a.
|
10
|
22
|
No
|
Dystonia
Trigger: Exercise Epileptic seizures (of any type) Myoclonus Attacks – bilateral Trigger: Prolonged fasting Trigger: Sleep deprivation Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
BEL
|
10
|
47
|
Yes
|
Attacks – bilateral
Athetosis Trigger: Exercise Chorea Epileptic seizures (of any type) Show more (+2) |
n.a.
|
|
No
|
♀
|
C
|
BEL
|
6
|
7
|
Yes
|
Attacks – bilateral
Trigger: Stress Chorea Athetosis Epileptic seizures (of any type) Show more (+2) |
n.a.
|