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