Rajakulendran, 2010: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
21
n.a.
n.a.
Nausea (ictal)
Vomiting
-Gait ataxia (ictal)
Ataxia
Nausea
Gait ataxia
Vertigo (ictal)
Vomiting (ictal)
Seizures
Vertigo
Ataxia (ictal)
Show more (+8)
Nausea
Vertigo
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Ataxia
Dysarthria
Vertigo
Vertigo (ictal)
Dysarthria (ictal)
Ataxia (ictal)
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
n.a.
n.a.
Ataxia
Ataxia (ictal)
Vomiting
Cognitive impairment
-Gait ataxia (ictal)
Gait ataxia
Vomiting (ictal)
Seizures
Show more (+5)
Vomiting
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
51
n.a.
n.a.
Gait ataxia
Seizures
Vertigo
Ataxia
Nystagmus
Nystagmus (interictal)
-Gait ataxia (ictal)
Vertigo (ictal)
Ataxia (ictal)
Diplopia
Diplopia (ictal)
Show more (+8)
Vertigo
Diplopia
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
-Gait ataxia (ictal)
Dysarthria (interictal)
Gait ataxia
-Hemiplegia (interictal)
Hemiplegia
Ataxia
Seizures
-Gait ataxia (interictal)
Dysarthria
Physical stress trigger
Ataxia (ictal)
Dysarthria (ictal)
Show more (+9)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
2
n.a.
n.a.
-Gait ataxia (ictal)
Ataxia, limb (ictal)
Ataxia, limb
Gait ataxia
Seizures
Dysarthria (ictal)
Ataxia (ictal)
Ataxia
Dysarthria
Show more (+6)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Vomiting
Ataxia (ictal)
Vomiting (ictal)
Ataxia
Seizures
Vertigo (ictal)
Vertigo
Show more (+4)
n.a.
Yes
n.a.
n.a.
12
n.a.
n.a.
Nausea
Vertigo (ictal)
Vertigo
Vomiting
Emotional stress trigger
Seizures
Vomiting (ictal)
Physical stress trigger
Nausea (ictal)
Ataxia
Fatigue (ictal)
Ataxia (ictal)
-Gait ataxia (ictal)
Gait ataxia
Show more (+11)
Vertigo
Seizures
Yes
n.a.
n.a.
1
n.a.
n.a.
-Gait ataxia (interictal)
Vomiting
Dysarthria (interictal)
Vomiting (ictal)
Hemiplegia
-Tremor (interictal)
Gait ataxia
Ataxia (ictal)
Seizures
Ataxia
Tremor (any or unspecified)
Dysarthria (ictal)
-Gait ataxia (ictal)
Dysarthria
Show more (+11)
Seizures
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Physical stress trigger
Dysarthria (ictal)
Dysarthria
Ataxia, limb (ictal)
Ataxia
Fatigue trigger
Cognitive impairment
Vomiting
Nausea
-Gait ataxia (ictal)
Seizures
Vomiting (ictal)
Headache
Gait ataxia
Headache (ictal)
Ataxia (ictal)
Ataxia, limb
Nausea (ictal)
Migraine
Migraine (ictal)
Show more (+17)
Dysarthria
Nausea
p.Glu921Asp: comp_het