Kipfer, 2013: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
CHE
5
20
n.a.
-Dystonia (ictal)
Dystonia (any or unspecified)
Decreased level of consciousness
Vertigo
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n.a.
No
C
CHE
n.a.
55
n.a.
Decreased level of consciousness
Slow saccades
Ataxia
Ataxia, limb
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n.a.
Yes
C
CHE
19
22
n.a.
Migraine
Dysarthria (ictal)
Vertigo
Gait ataxia
Ataxia (interictal)
Ataxia, limb
Dysarthria
Nystagmus (interictal)
Alcohol trigger
Emotional stress trigger
Vertigo (ictal)
Dysmetric saccades
Ataxia (ictal)
-Gait ataxia (ictal)
Ataxia
Nystagmus
-Limb ataxia (interictal)
Cerebellar atrophy
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Migraine