Ramm-Pettersen, 2013: 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.
17
n.a.
Delayed cognitive development
Epileptic seizures (of any type)
Trigger: Exercise
n.a.
Yes
n.a.
n.a.
n.a.
15
n.a.
Trigger: Exercise
Speech disturbance
n.a.
No
n.a.
n.a.
n.a.
19
n.a.
Epileptic seizures (of any type)
Trigger: Exercise
Speech disturbance
n.a.
p.Arg93Trp: het
Yes
n.a.
n.a.
n.a.
18
n.a.
Trigger: Exercise
n.a.
Yes
n.a.
n.a.
n.a.
52
n.a.
Delayed cognitive development
Speech disturbance
Trigger: Exercise
Epileptic seizures (of any type)
Show more (+1)
n.a.
p.Arg93Trp: het
Yes
n.a.
n.a.
n.a.
17
n.a.
Trigger: Exercise
Delayed cognitive development
Epileptic seizures (of any type)
n.a.
p.Arg330*: het