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.
|
Dystonic tremor
Trigger: Exercise Tremor, action Epileptic seizures (of any type) Attacks – bilateral Postural tremor Speech disturbance Attacks - face Delayed cognitive development Dystonia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
20
|
n.a.
|
Postural tremor
Delayed cognitive development Bradykinesia Epileptic seizures (of any type) Tremor, action Speech disturbance Dystonia Show more (+4) |
n.a.
|