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.
Vertigo
Decreased level of consciousness
-Dystonia (ictal)
Dystonia (any or unspecified)
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n.a.
No
C
CHE
n.a.
55
n.a.
Ataxia
Ataxia, limb
Slow saccades
Decreased level of consciousness
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n.a.
Yes
C
CHE
19
22
n.a.
Dysmetric saccades
Vertigo
Alcohol trigger
Ataxia (ictal)
Ataxia, limb
-Gait ataxia (ictal)
Ataxia
Nystagmus
-Limb ataxia (interictal)
Migraine
Ataxia (interictal)
Gait ataxia
Dysarthria
Emotional stress trigger
Dysarthria (ictal)
Nystagmus (interictal)
Vertigo (ictal)
Cerebellar atrophy
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Migraine