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