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