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