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