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
Trigger: Sudden movement
Dystonia
Epileptic seizures (of any type)
Aura preceding attacks
Show more (+1)
n.a.
p.Arg217*: het
Yes
♀
A
IDN
14
37
Yes
Aura preceding attacks
Attacks - face
Dystonia
Trigger: Sudden movement
Attacks - neck
Chorea
Show more (+3)
n.a.
Yes
♂
n.a.
n.a.
11
n.a.
n.a.
Trigger: Sudden movement
Dystonia
Attacks – bilateral
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
Trigger: Sudden movement
Dystonia
Chorea
n.a.
No
♂
n.a.
n.a.
15
n.a.
Yes
Trigger: Sudden movement
Dystonia
n.a.
p.Arg217*: het