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