Ghezzi, 2009: Overview of all reported PxMD-PNKD patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Trigger: Stress
Aura preceding attacks
Trigger: Sleep deprivation
Dystonia
Athetosis
Ataxia
Chorea
Attacks at rest
Attacks – bilateral
Speech disturbance
Attacks - neck
Attacks - face
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n.a.
p.Ala33Pro: het