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