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.
Trigger: Exercise
Epileptic seizures (of any type)
Delayed cognitive development
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.
Trigger: Exercise
Epileptic seizures (of any type)
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
Trigger: Exercise
Epileptic seizures (of any type)
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)
Delayed cognitive development
Trigger: Exercise
n.a.
p.Arg330*: het