Mullen, 2011: 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.
6
12
n.a.
Trigger: Sleep deprivation
Speech disturbance
Epileptic seizures (of any type)
Trigger: Exercise
Delayed cognitive development
Delayed motor development
Developmental regression
Ataxia
Delayed language development
Show more (+6)
n.a.
Yes
n.a.
n.a.
6
15
n.a.
Attacks - face
Epileptic seizures (of any type)
Trigger: Exercise
Attacks – bilateral
Speech disturbance
Developmental regression
Postural tremor
Trigger: Sleep deprivation
Delayed cognitive development
Show more (+6)
n.a.