De Giorgis, 2015: Overview of all reported PxMD-SLC2A1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ITA
|
5
|
28
|
Yes
|
n.a.
|
||
No
|
♀
|
C
|
ITA
|
n.a.
|
27
|
Yes
|
Epileptic seizures (of any type)
Trigger: Exercise |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
6
|
10
|
n.a.
|
Trigger: Exercise
Dystonia Epileptic seizures (of any type) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
5
|
10
|
Yes
|
Epileptic seizures (of any type)
Athetosis Trigger: Exercise Chorea Migraine (any subclass) Show more (+2) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
14
|
17
|
n.a.
|
Trigger: Exercise
Dystonia Epileptic seizures (of any type) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
n.a.
|
29
|
Yes
|
Epileptic seizures (of any type)
Trigger: Exercise |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
10
|
Yes
|
n.a.
|
||
Yes
|
♂
|
C
|
ITA
|
20
|
35
|
Yes
|
n.a.
|
||
No
|
♂
|
C
|
ITA
|
12
|
49
|
Yes
|
Epileptic seizures (of any type)
Trigger: Exercise Dystonia |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
6
|
17
|
n.a.
|
n.a.
|