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