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.
Seizures
Gait ataxia
Nausea (ictal)
Vomiting
-Gait ataxia (ictal)
Vomiting (ictal)
Ataxia
Vertigo
Nausea
Ataxia (ictal)
Vertigo (ictal)
Show more (+8)
Vertigo
Nausea
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Ataxia
Vertigo
Dysarthria (ictal)
Vertigo (ictal)
Ataxia (ictal)
Dysarthria
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
n.a.
n.a.
Ataxia
Vomiting (ictal)
-Gait ataxia (ictal)
Ataxia (ictal)
Seizures
Gait ataxia
Cognitive impairment
Vomiting
Show more (+5)
Vomiting
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
51
n.a.
n.a.
Diplopia (ictal)
Seizures
Gait ataxia
Nystagmus (interictal)
Diplopia
Ataxia
-Gait ataxia (ictal)
Ataxia (ictal)
Vertigo (ictal)
Nystagmus
Vertigo
Show more (+8)
Diplopia
Vertigo
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Dysarthria
-Hemiplegia (interictal)
Dysarthria (ictal)
-Gait ataxia (ictal)
Physical stress trigger
Ataxia
-Gait ataxia (interictal)
Hemiplegia
Seizures
Ataxia (ictal)
Gait ataxia
Dysarthria (interictal)
Show more (+9)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
2
n.a.
n.a.
Ataxia, limb
Dysarthria (ictal)
Ataxia
Gait ataxia
Dysarthria
Ataxia, limb (ictal)
-Gait ataxia (ictal)
Seizures
Ataxia (ictal)
Show more (+6)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Seizures
Ataxia
Ataxia (ictal)
Vertigo (ictal)
Vertigo
Vomiting
Vomiting (ictal)
Show more (+4)
n.a.
Yes
n.a.
n.a.
12
n.a.
n.a.
Gait ataxia
Vomiting (ictal)
Ataxia
Vertigo
Fatigue (ictal)
Physical stress trigger
-Gait ataxia (ictal)
Vomiting
Ataxia (ictal)
Emotional stress trigger
Seizures
Nausea (ictal)
Vertigo (ictal)
Nausea
Show more (+11)
Vertigo
Seizures
Yes
n.a.
n.a.
1
n.a.
n.a.
Vomiting (ictal)
Dysarthria
Ataxia
-Tremor (interictal)
Gait ataxia
Seizures
-Gait ataxia (ictal)
Dysarthria (ictal)
Tremor (any or unspecified)
Hemiplegia
Ataxia (ictal)
Dysarthria (interictal)
Vomiting
-Gait ataxia (interictal)
Show more (+11)
Seizures
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Ataxia, limb (ictal)
Nausea (ictal)
Physical stress trigger
Cognitive impairment
Headache (ictal)
Gait ataxia
Seizures
Ataxia (ictal)
Migraine (ictal)
Vomiting (ictal)
Ataxia, limb
Migraine
Nausea
Ataxia
Headache
Dysarthria (ictal)
Vomiting
Dysarthria
-Gait ataxia (ictal)
Fatigue trigger
Show more (+17)
Nausea
Dysarthria
p.Glu921Asp: comp_het