Alter, 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
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Delayed cognitive development
Dystonia Delayed language development Epileptic seizures (of any type) Trigger: Exercise Speech disturbance Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
23
|
n.a.
|
Ataxia
Dystonia Trigger: Exercise Delayed cognitive development Epileptic seizures (of any type) Myoclonus Tremor, action Show more (+4) |
n.a.
|