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.
Attacks – bilateral
Aura preceding attacks
Dystonia
Trigger: Sleep deprivation
Attacks - face
Chorea
Speech disturbance
Athetosis
Attacks at rest
Trigger: Stress
Ataxia
Attacks - neck
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n.a.
p.Ala33Pro: het