De Giorgis, 2015: Overview of all reported PxMD-SLC2A1 patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.ITA6NoDystonia,
Epileptic seizures (of any type),
Trigger: Exercise
n.g.p.Arg126Cys: n.g.
Yesn.g.ITA20YesAthetosis,
Chorea,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Arg153Cys: n.g.
Yesn.g.ITA8NoAthetosis,
Chorea,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Arg223Trp: n.g.
Yesn.g.ITA14n.g.Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise
n.g.p.Arg458Trp: n.g.
Yesn.g.ITA5YesAthetosis,
Chorea,
Epileptic seizures (of any type),
Migraine (any subclass),
Trigger: Exercise

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n.g.p.Arg458Trp: n.g.
Yesn.g.ITA6n.g.Ataxia,
Epileptic seizures (of any type),
Migraine (any subclass),
Myoclonus

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n.g.p.Arg92Trp: n.g.
Yesn.g.ITA5YesAthetosis,
Chorea,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Gly91Ala: n.g.
Non.g.ITA12YesDystonia,
Epileptic seizures (of any type),
Trigger: Exercise
n.g.p.Gly91Ala: n.g.
Non.g.ITAn.g.YesEpileptic seizures (of any type),
Trigger: Exercise
n.g.p.Val165Ile: n.g.
Non.g.ITAn.g.YesEpileptic seizures (of any type),
Trigger: Exercise
n.g.p.Val165Ile: n.g.