Hully, 2015: Overview of all reported PxMD-SLC2A1 patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.FRAn.g.n.g.Ataxia,
Delayed cognitive development,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Glu146Lys: n.g.
Yesn.g.FRAn.g.NoAtaxia,
Delayed cognitive development,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Gly130Ser: n.g.
Yesn.g.FRAn.g.n.g.Ataxia,
Trigger: Exercise
n.g.p.Gly79Asp: n.g.
Yesn.g.FRAn.g.YesAtaxia,
Delayed cognitive development,
Trigger: Exercise
n.g.p.Met142Lys: n.g.
Yesn.g.FRAn.g.NoAtaxia,
Delayed cognitive development,
Dystonia,
Trigger: Exercise

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n.g.p.Ser148Leu: n.g.
Yesn.g.FRAn.g.NoAtaxia,
Delayed cognitive development,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Thr295Met: n.g.