Mullen, 2010: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
AUS
n.a.
59
Yes
Dystonia
Attacks – bilateral
Trigger: Prolonged fasting
Trigger: Exercise
Show more (+1)
n.a.
No
C
AUS
n.a.
83
Yes
Epileptic seizures (of any type)
Trigger: Exercise
Attacks – bilateral
n.a.
No
C
AUS
n.a.
48
Yes
Trigger: Exercise
Trigger: Prolonged fasting
Chorea
Epileptic seizures (of any type)
Dystonia
Show more (+2)
n.a.
No
C
AUS
20
46
Yes
Epileptic seizures (of any type)
Dystonia
Trigger: Exercise
n.a.
No
C
AUS
n.a.
28
Yes
Trigger: Exercise
Epileptic seizures (of any type)
n.a.
Yes
C
AUS
n.a.
57
Yes
Ataxia
Trigger: Exercise
Dystonia
Epileptic seizures (of any type)
Show more (+1)
n.a.
Yes
C
AUS
20
54
Yes
Attacks – bilateral
Dystonia
Trigger: Exercise
Epileptic seizures (of any type)
Show more (+1)
n.a.