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.
Speech disturbance
Trigger: Exercise
n.a.
No
n.a.
n.a.
n.a.
19
n.a.
Speech disturbance
Epileptic seizures (of any type)
Trigger: Exercise
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.
Epileptic seizures (of any type)
Delayed cognitive development
Trigger: Exercise
Speech disturbance
Show more (+1)
n.a.
p.Arg93Trp: het
Yes
n.a.
n.a.
n.a.
17
n.a.
Epileptic seizures (of any type)
Trigger: Exercise
Delayed cognitive development
n.a.
p.Arg330*: het