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.
Ataxia (ictal)
Dysarthria
Vertigo (ictal)
Dysarthria (ictal)
Ataxia
Vertigo
Nystagmus
Show more (+4)
n.a.
p.Cys1369*: het
No
C
n.a.
12
n.a.
n.a.
Dysarthria
Impaired vision
Dystonia (any or unspecified)
Ataxia
-Gait ataxia (ictal)
Gait ataxia
Dysarthria (ictal)
Ataxia (ictal)
Nystagmus
Show more (+6)
n.a.
p.Cys1369*: het