Rainier, 2004: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
POL
n.a.
n.a.
Yes
Attacks – bilateral
Trigger: Alcohol
Attacks - face
Trigger: Caffeine
Attacks at rest
Show more (+2)
n.a.
p.Ala9Val: het
No
C
POL
n.a.
n.a.
Yes
Attacks – bilateral
Trigger: Alcohol
Trigger: Caffeine
Attacks at rest
Attacks - face
Show more (+2)
n.a.
p.Ala9Val: het
Yes
C
n.a.
n.a.
n.a.
Yes
Attacks - face
Attacks at rest
Trigger: Caffeine
Attacks – bilateral
Trigger: Alcohol
Show more (+2)
n.a.
p.Ala7Val: het
No
C
POL
n.a.
n.a.
Yes
Attacks at rest
Attacks - face
Attacks – bilateral
Trigger: Alcohol
Trigger: Caffeine
Show more (+2)
n.a.
p.Ala9Val: het
No
C
POL
n.a.
n.a.
Yes
Attacks at rest
Attacks - face
Trigger: Alcohol
Trigger: Caffeine
Attacks – bilateral
Show more (+2)
n.a.
p.Ala9Val: het
No
C
POL
n.a.
n.a.
Yes
Attacks at rest
Trigger: Alcohol
Attacks – bilateral
Attacks - face
Trigger: Caffeine
Show more (+2)
n.a.
p.Ala9Val: het
No
C
n.a.
n.a.
n.a.
Yes
Trigger: Caffeine
Attacks - face
Attacks at rest
Attacks – bilateral
Trigger: Alcohol
Show more (+2)
n.a.
p.Ala7Val: het
No
C
POL
n.a.
n.a.
Yes
Trigger: Caffeine
Attacks – bilateral
Attacks - face
Trigger: Alcohol
Attacks at rest
Show more (+2)
n.a.
p.Ala9Val: het
No
C
n.a.
n.a.
n.a.
Yes
Attacks - face
Attacks – bilateral
Trigger: Alcohol
Trigger: Caffeine
Attacks at rest
Show more (+2)
n.a.
p.Ala7Val: het
No
C
n.a.
n.a.
n.a.
Yes
Attacks - face
Trigger: Alcohol
Attacks at rest
Trigger: Caffeine
Attacks – bilateral
Show more (+2)
n.a.
p.Ala7Val: het