Groffen, 2013: Overview of all reported PxMD-PRRT2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
n.a.
n.a.
15
n.a.
Yes
Epileptic seizures (of any type)
Trigger: Sudden movement
Dystonia
Aura preceding attacks
Show more (+1)
n.a.
p.Arg217*: het
Yes
♀
A
IDN
14
37
Yes
Attacks - neck
Trigger: Sudden movement
Dystonia
Aura preceding attacks
Chorea
Attacks - face
Show more (+3)
n.a.
Yes
♂
n.a.
n.a.
11
n.a.
n.a.
Dystonia
Attacks – bilateral
Trigger: Sudden movement
n.a.
Yes
♂
n.a.
n.a.
13
n.a.
n.a.
Dystonia
Trigger: Sudden movement
n.a.
No
♂
A
IDN
15
n.a.
Yes
Chorea
Dystonia
Trigger: Sudden movement
n.a.
No
♂
n.a.
n.a.
15
n.a.
Yes
Dystonia
Trigger: Sudden movement
n.a.
p.Arg217*: het