Shimmura, 2017: 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.
4
34
n.a.
Ataxia (ictal)
Emotional stress trigger
-Gait ataxia (interictal)
Nystagmus
Heat trigger
Nausea (ictal)
Gait ataxia
Ataxia
Ophthalmoparesis
Seizures
Cerebellar atrophy
Vertigo
-Limb ataxia (interictal)
Nausea
Vertigo (ictal)
Ataxia, limb
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Vertigo
Nausea
p.Gln1674*: het