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

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Trigger: Exercise
Delayed cognitive development
Dystonia
Epileptic seizures (of any type)
Speech disturbance
Delayed language development
Show more (+3)
n.a.
p.Tyr449*: het
Yes
n.a.
n.a.
6
23
n.a.
Myoclonus
Tremor, action
Epileptic seizures (of any type)
Delayed cognitive development
Ataxia
Trigger: Exercise
Dystonia
Show more (+4)
n.a.