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