Hempelmann, 2006: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Aura preceding attacks
Attacks - trunk
Attacks – bilateral
Dystonia
Trigger: Sleep deprivation
Attacks - neck
Speech disturbance
Attacks at rest
Attacks - face
Trigger: Stress
Chorea
Athetosis
Show more (+9)
n.a.
p.Ala7Val: het
Yes
n.a.
B
OMN
n.a.
n.a.
n.a.
Trigger: Stress
Attacks - trunk
Aura preceding attacks
Attacks at rest
Attacks - neck
Trigger: Sleep deprivation
Dystonia
Athetosis
Attacks - face
Chorea
Speech disturbance
Attacks – bilateral
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Aura preceding attacks
Athetosis
Attacks - neck
Attacks at rest
Trigger: Stress
Chorea
Dystonia
Trigger: Sleep deprivation
Attacks - face
Attacks - trunk
Attacks – bilateral
Speech disturbance
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Athetosis
Speech disturbance
Attacks - neck
Attacks at rest
Trigger: Stress
Attacks – bilateral
Attacks - trunk
Chorea
Trigger: Sleep deprivation
Attacks - face
Aura preceding attacks
Dystonia
Show more (+9)
n.a.
p.Ala7Val: het
No
B
OMN
n.a.
n.a.
n.a.
Attacks – bilateral
Chorea
Attacks - face
Attacks - trunk
Trigger: Stress
Aura preceding attacks
Athetosis
Dystonia
Attacks at rest
Speech disturbance
Trigger: Sleep deprivation
Attacks - neck
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Aura preceding attacks
Attacks at rest
Dystonia
Trigger: Sleep deprivation
Athetosis
Attacks – bilateral
Speech disturbance
Chorea
Attacks - neck
Attacks - trunk
Trigger: Stress
Attacks - face
Show more (+9)
n.a.
p.Ala7Val: het