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.
Trigger: Sleep deprivation
Aura preceding attacks
Attacks - face
Dystonia
Attacks - neck
Chorea
Athetosis
Attacks – bilateral
Attacks - trunk
Trigger: Stress
Attacks at rest
Speech disturbance
Show more (+9)
n.a.
p.Ala7Val: het
Yes
n.a.
B
OMN
n.a.
n.a.
n.a.
Attacks - face
Attacks - neck
Attacks - trunk
Trigger: Sleep deprivation
Dystonia
Attacks – bilateral
Attacks at rest
Speech disturbance
Trigger: Stress
Athetosis
Aura preceding attacks
Chorea
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Trigger: Sleep deprivation
Attacks – bilateral
Attacks - face
Athetosis
Attacks - trunk
Attacks at rest
Attacks - neck
Dystonia
Chorea
Speech disturbance
Aura preceding attacks
Trigger: Stress
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Trigger: Sleep deprivation
Aura preceding attacks
Attacks – bilateral
Trigger: Stress
Attacks at rest
Speech disturbance
Dystonia
Chorea
Attacks - face
Attacks - neck
Athetosis
Attacks - trunk
Show more (+9)
n.a.
p.Ala7Val: het
No
B
OMN
n.a.
n.a.
n.a.
Athetosis
Chorea
Attacks - face
Trigger: Sleep deprivation
Dystonia
Speech disturbance
Trigger: Stress
Attacks - trunk
Attacks - neck
Attacks – bilateral
Attacks at rest
Aura preceding attacks
Show more (+9)
n.a.
p.Ala7Val: het
No
n.a.
B
OMN
n.a.
n.a.
n.a.
Trigger: Stress
Attacks - neck
Athetosis
Attacks at rest
Dystonia
Aura preceding attacks
Trigger: Sleep deprivation
Attacks - face
Speech disturbance
Attacks - trunk
Attacks – bilateral
Chorea
Show more (+9)
n.a.
p.Ala7Val: het