Roubergue, 2011: Overview of all reported PxMD-SLC2A1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
6
|
48
|
n.a.
|
Dystonia
Dystonic tremor Attacks - face Trigger: Exercise Attacks – bilateral Epileptic seizures (of any type) Speech disturbance Delayed cognitive development Postural tremor Tremor, action Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
20
|
n.a.
|
Tremor, action
Dystonia Epileptic seizures (of any type) Postural tremor Bradykinesia Delayed cognitive development Speech disturbance Show more (+4) |
n.a.
|