Hully, 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
|
FRA
|
n.a.
|
22
|
n.a.
|
Ataxia
Trigger: Exercise |
n.a.
|
|
Yes
|
♀
|
C
|
FRA
|
n.a.
|
14
|
n.a.
|
Trigger: Exercise
Ataxia Delayed cognitive development |
n.a.
|
|
Yes
|
♂
|
C
|
FRA
|
n.a.
|
12
|
n.a.
|
Trigger: Exercise
Delayed cognitive development Ataxia Epileptic seizures (of any type) Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
FRA
|
n.a.
|
11
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
C
|
FRA
|
n.a.
|
8
|
n.a.
|
Ataxia
Trigger: Exercise Epileptic seizures (of any type) Delayed cognitive development Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
FRA
|
n.a.
|
16
|
n.a.
|
Trigger: Exercise
Epileptic seizures (of any type) Delayed cognitive development Ataxia Show more (+1) |
n.a.
|