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.
Emotional stress trigger
Seizures
Ataxia (ictal)
Nausea
Ataxia
Cerebellar atrophy
-Gait ataxia (interictal)
Heat trigger
Nausea (ictal)
Vertigo (ictal)
Gait ataxia
-Limb ataxia (interictal)
Vertigo
Nystagmus
Ophthalmoparesis
Ataxia, limb
Show more (+13)
Nausea
Vertigo
p.Gln1674*: het