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