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