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.
Epileptic seizures (of any type)
Delayed cognitive development
Dystonia
Speech disturbance
Trigger: Exercise
Delayed language development
Show more (+3)
n.a.
p.Tyr449*: het
Yes
n.a.
n.a.
6
23
n.a.
Epileptic seizures (of any type)
Tremor, action
Trigger: Exercise
Delayed cognitive development
Myoclonus
Dystonia
Ataxia
Show more (+4)
n.a.