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.
Ataxia
Cerebellar atrophy
Vomiting (ictal)
Muscle weakness
Headache
Vomiting
Nystagmus (interictal)
Headache (ictal)
-Muscle weakness (ictal)
Nystagmus
Tonic upgaze
Ataxia (ictal)
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Tonic upgaze
p.Arg1346*: het