Kinder, 2015: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
n.a.
n.a.
n.a.
Dysarthria
Dysarthria (ictal)
Vertigo (ictal)
Ataxia (ictal)
Ataxia
Vertigo
Nystagmus
Show more (+4)
n.a.
p.Cys1369*: het
No
C
n.a.
12
n.a.
n.a.
Nystagmus
Ataxia (ictal)
Dysarthria (ictal)
Impaired vision
Gait ataxia
Ataxia
Dysarthria
-Gait ataxia (ictal)
Dystonia (any or unspecified)
Show more (+6)
n.a.
p.Cys1369*: het