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

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

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n.g.p.Tyr449*: n.g.
Yesn.g.n.g.6YesAction tremor,
Ataxia,
Delayed cognitive development,
Dystonia,
Epileptic seizures (of any type),
Myoclonus,
Trigger: Exercise

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n.g.c.(?_-179)_(*1660_?)del: n.g.