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