De Giorgis, 2015: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
ITA
5
28
Yes
Epileptic seizures (of any type)
Athetosis
Chorea
Dystonia
Trigger: Exercise
Show more (+2)
n.a.
p.Gly91Ala: het
No
C
ITA
n.a.
27
Yes
Trigger: Exercise
Epileptic seizures (of any type)
n.a.
Yes
C
ITA
6
10
n.a.
Dystonia
Trigger: Exercise
Epileptic seizures (of any type)
n.a.
Yes
C
ITA
5
10
Yes
Athetosis
Trigger: Exercise
Epileptic seizures (of any type)
Migraine (any subclass)
Chorea
Show more (+2)
n.a.
Yes
C
ITA
14
17
n.a.
Dystonia
Epileptic seizures (of any type)
Trigger: Exercise
n.a.
No
C
ITA
n.a.
29
Yes
Epileptic seizures (of any type)
Trigger: Exercise
n.a.
Yes
C
ITA
3
10
Yes
Athetosis
Epileptic seizures (of any type)
Trigger: Exercise
Dystonia
Chorea
Show more (+2)
n.a.
Yes
C
ITA
20
35
Yes
Athetosis
Epileptic seizures (of any type)
Chorea
Trigger: Exercise
Dystonia
Show more (+2)
n.a.
No
C
ITA
12
49
Yes
Dystonia
Epileptic seizures (of any type)
Trigger: Exercise
n.a.
p.Gly91Ala: het
Yes
C
ITA
6
17
n.a.
Myoclonus
Ataxia
Epileptic seizures (of any type)
Migraine (any subclass)
Show more (+1)
n.a.
p.Arg92Trp: het