Stefanova, 2006: Overview of all reported PxMD-PNKD patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Non.g.SRB1YesAthetosis,
Attacks - face,
Attacks at rest,
Aura preceding attacks,
Bilateral attacks,
Chorea,
Dystonia,
Speech disturbance,
Trigger: Caffeine,
Trigger: Stress

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n.g.p.Ala9Val: n.g.
Non.g.SRB0YesAthetosis,
Attacks - face,
Attacks - trunk,
Attacks at rest,
Aura preceding attacks,
Bilateral attacks,
Chorea,
Dystonia,
Trigger: Caffeine,
Trigger: Prolonged fasting,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala9Val: n.g.
Non.g.SRB1YesAthetosis,
Attacks - face,
Attacks - neck,
Attacks at rest,
Aura preceding attacks,
Bilateral attacks,
Chorea,
Trigger: Caffeine,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala9Val: n.g.
Yesn.g.SRB0YesAthetosis,
Attacks - face,
Attacks - neck,
Attacks at rest,
Bilateral attacks,
Chorea,
Dystonia,
Trigger: Prolonged fasting,
Trigger: Stress

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n.g.p.Ala9Val: n.g.
Non.g.SRB0YesAttacks - neck,
Attacks at rest,
Aura preceding attacks,
Bilateral attacks,
Dystonia,
Trigger: Caffeine,
Trigger: Prolonged fasting,
Trigger: Sleep deprivation,
Trigger: Stress

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n.g.p.Ala9Val: n.g.