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

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
A
CHN
4
21
n.a.
Vomiting (ictal)
-Gait ataxia (interictal)
Tremor (any or unspecified)
Nystagmus (ictal)
Muscle weakness
Nausea
-Muscle weakness (ictal)
Vomiting
Ataxia (ictal)
Diplopia
Nystagmus
-Tremor (ictal)
Dysarthria (ictal)
Dysarthria
Ataxia
Diplopia (ictal)
-Gait ataxia (ictal)
Gait ataxia
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n.a.
No
♂
A
CHN
35
54
n.a.
-Gait ataxia (ictal)
Myokymia
Dysarthria
Seizures
Vomiting
Emotional stress trigger
Hyperhidrosis
Headache
Dystonia (any or unspecified)
Physical stress trigger
Nausea
Gait ataxia
Muscle weakness
Nystagmus
Ataxia (ictal)
Visual blurring
Ataxia
Migraine
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n.a.
No
♂
A
CHN
5
16
n.a.
-Gait ataxia (ictal)
Gait ataxia
Muscle weakness
Ataxia
Dysarthria
Ataxia (ictal)
Migraine
Nausea
Vomiting
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n.a.
No
♀
A
CHN
12
47
n.a.
-Gait ataxia (ictal)
Dysarthria
Ataxia (ictal)
Vertigo
Nausea
Ataxia
Gait ataxia
Vomiting
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n.a.
No
♂
A
CHN
4
25
n.a.
Ataxia
Dysarthria
Myokymia
Muscle weakness
Tremor (any or unspecified)
Emotional stress trigger
Gait ataxia
Vertigo
Diplopia
-Gait ataxia (ictal)
Physical stress trigger
Ataxia (ictal)
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n.a.
No
♀
A
CHN
5
74
n.a.
-Gait ataxia (ictal)
Gait ataxia
Myokymia
Dysarthria
Vomiting
Nystagmus
Ataxia
Nausea
Ataxia (ictal)
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n.a.
No
♂
A
CHN
7
21
n.a.
Diplopia
Vertigo
Myokymia
Tinnitus
Hyperhidrosis
-Gait ataxia (ictal)
Physical stress trigger
Ataxia (ictal)
Gait ataxia
Headache
Dysarthria
Ataxia
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n.a.