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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
Trigger: Exercise
Dystonia
Postural tremor
Chorea
Show more (+1)
n.a.
No
n.a.
n.a.
3
8
Yes
Dystonia
Trigger: Exercise
Attacks – bilateral
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
Yes
Chorea
Trigger: Exercise
Postural tremor
Dystonia
Show more (+1)
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Chorea
Postural tremor
Dystonia
Trigger: Exercise
Show more (+1)
n.a.
No
n.a.
n.a.
9
76
Yes
Epileptic seizures (of any type)
Tremor (any or unspecified)
Dystonia
Trigger: Exercise
Bradykinesia
Show more (+2)
n.a.
No
n.a.
n.a.
n.a.
n.a.
Yes
Dystonia
Postural tremor
Trigger: Exercise
Chorea
Show more (+1)
n.a.
Yes
n.a.
n.a.
4
38
Yes
Dystonia
Attacks – bilateral
Trigger: Exercise
n.a.
No
n.a.
n.a.
4
15
Yes
Epileptic seizures (of any type)
Attacks – bilateral
Dystonia
Trigger: Exercise
Show more (+1)
n.a.
No
n.a.
n.a.
9
11
Yes
Migraine (any subclass)
Delayed motor development
Dystonia
Attacks – bilateral
Epileptic seizures (of any type)
Trigger: Exercise
Show more (+3)
n.a.
No
n.a.
n.a.
6
60
Yes
Ballism
Chorea
Dystonia
Athetosis
Attacks – bilateral
Trigger: Exercise
Show more (+3)
n.a.