Yeh, 2012: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
TWN
9
58
Yes
Trigger: Anxiety
Trigger: Sleep deprivation
Aura preceding attacks
Attacks – bilateral
Sleep benefit
Trigger: Stress
Trigger: Caffeine
Chorea
Show more (+5)
n.a.
p.Ala7Val: het
No
A
TWN
5
37
Yes
Athetosis
Aura preceding attacks
Dystonia
Trigger: Sleep deprivation
Trigger: Caffeine
Trigger: Alcohol
Attacks - neck
Trigger: Exercise
Attacks – bilateral
Chorea
Trigger: Stress
Attacks - trunk
Sleep benefit
Attacks - face
Trigger: Anxiety
Show more (+12)
n.a.
p.Ala7Val: het
No
A
TWN
0
4
Yes
Dystonia
Attacks - trunk
Trigger: Stress
Sleep benefit
Attacks – bilateral
Chorea
Aura preceding attacks
Speech disturbance
Athetosis
Attacks - neck
Trigger: Sleep deprivation
Show more (+8)
n.a.
p.Ala7Val: het
Yes
A
TWN
3
38
Yes
Ballism
Speech disturbance
Attacks – bilateral
Trigger: Caffeine
Trigger: Anxiety
Trigger: Sleep deprivation
Aura preceding attacks
Sleep benefit
Athetosis
Attacks - face
Chorea
Trigger: Exercise
Dystonia
Trigger: Stress
Show more (+11)
n.a.
p.Ala7Val: het
No
A
TWN
7
35
Yes
Attacks – bilateral
Trigger: Exercise
Ballism
Trigger: Caffeine
Trigger: Stress
Migraine (any subclass)
Dystonia
Chorea
Sleep benefit
Trigger: Anxiety
Trigger: Sleep deprivation
Show more (+8)
n.a.
p.Ala7Val: het