Leen, 2014: Overview of all reported PxMD-SLC2A1 patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.n.g.16YesAtaxia,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Arg264Profs*117: n.g.
Yesn.g.n.g.20n.g.Ataxia,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Gly91Asp: n.g.
Yesn.g.n.g.n.g.n.g.Ataxia,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Speech disturbance,
Trigger: Exercise

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n.g.p.Gln37*: n.g.
Yesn.g.n.g.15NoAtaxia,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Trigger: Exercise

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n.g.p.Met1?: n.g.