Fujioka, 2012: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
2
23
n.a.
Nystagmus
Ataxia
Vomiting (ictal)
Vomiting
Nystagmus (interictal)
Tonic upgaze
-Muscle weakness (ictal)
Ataxia (ictal)
Muscle weakness
Headache
Cerebellar atrophy
Headache (ictal)
Show more (+9)
Tonic upgaze
p.Arg1346*: het