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