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: Caffeine
Sleep benefit
Trigger: Stress
Aura preceding attacks
Trigger: Anxiety
Chorea
Trigger: Sleep deprivation
Attacks – bilateral
Show more (+5)
n.a.
p.Ala7Val: het
No
A
TWN
5
37
Yes
Dystonia
Trigger: Exercise
Sleep benefit
Athetosis
Trigger: Anxiety
Trigger: Sleep deprivation
Trigger: Stress
Attacks - neck
Attacks – bilateral
Aura preceding attacks
Trigger: Alcohol
Attacks - trunk
Trigger: Caffeine
Chorea
Attacks - face
Show more (+12)
n.a.
p.Ala7Val: het
No
A
TWN
0
4
Yes
Aura preceding attacks
Chorea
Attacks - trunk
Attacks – bilateral
Athetosis
Attacks - neck
Trigger: Sleep deprivation
Trigger: Stress
Sleep benefit
Speech disturbance
Dystonia
Show more (+8)
n.a.
p.Ala7Val: het
Yes
A
TWN
3
38
Yes
Chorea
Attacks - face
Ballism
Trigger: Exercise
Dystonia
Speech disturbance
Trigger: Sleep deprivation
Aura preceding attacks
Athetosis
Attacks – bilateral
Trigger: Caffeine
Trigger: Stress
Trigger: Anxiety
Sleep benefit
Show more (+11)
n.a.
p.Ala7Val: het
No
A
TWN
7
35
Yes
Migraine (any subclass)
Trigger: Sleep deprivation
Attacks – bilateral
Trigger: Exercise
Trigger: Stress
Trigger: Caffeine
Chorea
Dystonia
Trigger: Anxiety
Ballism
Sleep benefit
Show more (+8)
n.a.
p.Ala7Val: het