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