Weber, 2011: 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
|
DEU
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
DEU
|
6
|
16
|
Yes
|
Epileptic seizures (of any type)
Trigger: Exercise Chorea Migraine (any subclass) Dystonia Athetosis Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
14
|
26
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
DEU
|
5
|
49
|
Yes
|
Dystonia
Migraine (any subclass) Speech disturbance Trigger: Anxiety Attacks – bilateral Trigger: Exercise Trigger: Stress Postural instability Athetosis Attacks - face Delayed cognitive development Chorea Show more (+9) |
n.a.
|
|
No
|
♀
|
C
|
DEU
|
3
|
74
|
Yes
|
Migraine (any subclass)
Trigger: Exercise Ataxia Athetosis Chorea Dystonia Bradykinesia Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
10
|
42
|
Yes
|
n.a.
|
||
No
|
♀
|
C
|
DEU
|
7
|
47
|
Yes
|
Delayed cognitive development
Athetosis Chorea Dystonia Migraine (any subclass) Ataxia Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
DEU
|
7
|
29
|
Yes
|
Ataxia
Delayed cognitive development Migraine (any subclass) Chorea Dystonia Athetosis Bradykinesia Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
10
|
50
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
AUS
|
n.a.
|
41
|
Yes
|
Athetosis
Trigger: Stress Chorea Dystonia Trigger: Exercise Trigger: Anxiety Trigger: Prolonged fasting Show more (+4) |
n.a.
|