Tacik, 2014: 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.
7
63
n.a.
Attacks - neck
Chorea
Attacks - face
Attacks - trunk
Athetosis
Ballism
Attacks – bilateral
Trigger: Exercise
Dystonia
Show more (+6)
n.a.
p.Ser324=: het
Yes
n.a.
n.a.
8
42
n.a.
Ballism
Chorea
Epileptic seizures (of any type)
Attacks - trunk
Aura preceding attacks
Dystonia
Attacks - face
Trigger: Exercise
Attacks - neck
Attacks – bilateral
Athetosis
Show more (+8)
n.a.
p.Ser324=: het