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