Leen, 2014: Overview of all reported PxMD-SLC2A1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
16
|
21
|
n.a.
|
Dystonia
Trigger: Exercise Ataxia Epileptic seizures (of any type) Delayed cognitive development Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
15
|
21
|
n.a.
|
Ataxia
Epileptic seizures (of any type) Dystonia Delayed cognitive development Trigger: Exercise Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
20
|
24
|
n.a.
|
Epileptic seizures (of any type)
Ataxia Dystonia Trigger: Exercise Delayed cognitive development Show more (+2) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
41
|
n.a.
|
Trigger: Exercise
Ataxia Delayed cognitive development Speech disturbance Dystonia Epileptic seizures (of any type) Show more (+3) |
n.a.
|