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