Schneider, 2009: Overview of all reported PxMD-SLC2A1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
C
GBR
4
43
n.a.
Attacks – bilateral
Dystonia
Trigger: Exercise
n.a.
Yes
♀
C
GBR
n.a.
25
n.a.
Attacks – bilateral
Speech disturbance
Chorea
Autonomic sign/sympt.
Trigger: Exercise
Attacks - trunk
Epileptic seizures (of any type)
Hemiplegic migraine
Postural tremor
Athetosis
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n.a.
p.Arg92Trp: het