Weber, 2008: 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.
n.a.
n.a.
Yes
Dystonia
Trigger: Exercise
Postural tremor
Chorea
Show more (+1)
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Postural tremor
Trigger: Exercise
Chorea
Dystonia
Show more (+1)
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Trigger: Exercise
Dystonia
Postural tremor
Chorea
Show more (+1)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
Yes
Chorea
Dystonia
Postural tremor
Trigger: Exercise
Show more (+1)
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Chorea
Dystonia
Postural tremor
Trigger: Exercise
Show more (+1)
n.a.
Yes
n.a.
n.a.
4
38
Yes
Dystonia
Trigger: Exercise
Attacks – bilateral
n.a.
No
n.a.
n.a.
9
11
Yes
Epileptic seizures (of any type)
Attacks – bilateral
Delayed motor development
Trigger: Exercise
Dystonia
Migraine (any subclass)
Show more (+3)
n.a.
No
n.a.
n.a.
3
8
Yes
Attacks – bilateral
Trigger: Exercise
Dystonia
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Trigger: Exercise
n.a.
No
n.a.
n.a.
9
76
Yes
Trigger: Exercise
Epileptic seizures (of any type)
Bradykinesia
Tremor (any or unspecified)
Dystonia
Show more (+2)
n.a.