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