Arsov, 2012: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
AUS
n.a.
24
Yes
Epileptic seizures (of any type)
Attacks – bilateral
Trigger: Exercise
n.a.
p.Thr60Met: het
No
n.a.
AUS
36
64
Yes
Dystonia
Attacks – bilateral
Epileptic seizures (of any type)
Trigger: Exercise
Show more (+1)
n.a.
Yes
n.a.
AUS
n.a.
40
No
Trigger: Exercise
Epileptic seizures (of any type)
Attacks – bilateral
Dystonia
Show more (+1)
n.a.
Yes
n.a.
AUS
n.a.
30
Yes
Trigger: Exercise
Attacks – bilateral
Dystonia
Epileptic seizures (of any type)
Show more (+1)
n.a.