Szczałuba, 2009: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
C
POL
2
5
n.a.
Trigger: Exercise
Attacks at rest
Aura preceding attacks
Trigger: Anxiety
Trigger: Stress
Athetosis
Attacks – bilateral
Chorea
Show more (+5)
n.a.
p.Ala9Val: het
Yes
♀
C
POL
n.a.
8
n.a.
Attacks at rest
Attacks – bilateral
Trigger: Exercise
Speech disturbance
Trigger: Stress
Aura preceding attacks
Trigger: Anxiety
Attacks - face
Dystonia
Attacks - neck
Show more (+7)
n.a.
p.Ala9Val: het
No
♂
C
POL
n.a.
44
n.a.
Attacks - neck
Attacks - face
Attacks – bilateral
Attacks at rest
Dystonia
Show more (+2)
n.a.
p.Ala9Val: het