Lamperti, 2016: Overview of all reported PxMD-PRRT2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
ITA
40
n.a.
Yes
Attacks - trunk
Attacks - neck
Dystonia
Attacks - face
Attacks – bilateral
Show more (+2)
n.a.
Yes
C
ITA
9
11
No
Attacks - neck
Epileptic seizures (of any type)
Chorea
Attacks – bilateral
Aura preceding attacks
Ballism
Trigger: Stress
Migraine (any subclass)
Attacks - face
Dystonia
Attacks - trunk
Show more (+8)
n.a.
Yes
C
ITA
14
17
No
Attacks - trunk
Attacks - face
Attacks - neck
Aura preceding attacks
Dystonia
Attacks – bilateral
Show more (+3)
n.a.
No
C
ITA
12
n.a.
Yes
Dystonia
n.a.
No
C
ITA
12
n.a.
Yes
Attacks - trunk
Attacks - face
Dystonia
Attacks – bilateral
Attacks - neck
Show more (+2)
n.a.
No
C
ITA
13
n.a.
Yes
Dystonia
n.a.
Yes
C
ITA
12
34
Yes
Chorea
Dystonia
Epileptic seizures (of any type)
Attacks - face
Attacks - trunk
Attacks - neck
Athetosis
Attacks – bilateral
Show more (+5)
n.a.
Yes
C
ITA
17
20
Yes
Dystonia
Migraine (any subclass)
n.a.
p.Ser9*: het
No
C
ITA
n.a.
n.a.
Yes
Epileptic seizures (of any type)
Attacks - neck
Chorea
Attacks - trunk
Attacks – bilateral
Attacks - face
Athetosis
Show more (+4)
n.a.
Yes
C
ITA
8
19
Yes
Attacks - neck
Dystonia
Epileptic seizures (of any type)
Attacks - trunk
Attacks - face
Attacks – bilateral
Show more (+3)
n.a.
Yes
C
ITA
5
19
Yes
Attacks - neck
Attacks – bilateral
Attacks - face
Attacks - trunk
Chorea
Athetosis
Epileptic seizures (of any type)
Show more (+4)
n.a.
Yes
C
ITA
8
11
Yes
Dystonia
Aura preceding attacks
n.a.
No
C
ITA
13
n.a.
No
Ballism
Epileptic seizures (of any type)
Dystonia
Attacks – bilateral
Show more (+1)
n.a.
Yes
C
ITA
8
29
Yes
Attacks - face
Attacks – bilateral
Attacks - neck
Dystonia
Aura preceding attacks
Attacks - trunk
Show more (+3)
n.a.
Yes
C
ITA
12
16
Yes
Dystonia
Attacks - neck
Attacks - face
Aura preceding attacks
Attacks – bilateral
Attacks - trunk
Epileptic seizures (of any type)
Show more (+4)
n.a.
Yes
C
ITA
10
n.a.
Yes
Aura preceding attacks
Dystonia
Ballism
Migraine (any subclass)
Show more (+1)
n.a.