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.
Epileptic seizures (of any type)
Delayed cognitive development
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.
Trigger: Exercise
Speech disturbance
Epileptic seizures (of any type)
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.
Trigger: Exercise
Speech disturbance
Delayed cognitive development
Epileptic seizures (of any type)
Show more (+1)
n.a.
p.Arg93Trp: het
Yes
n.a.
n.a.
n.a.
17
n.a.
Delayed cognitive development
Epileptic seizures (of any type)
Trigger: Exercise
n.a.
p.Arg330*: het