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