Roubertie, 2008: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
4
5
n.a.
Ataxia
Vomiting
Ataxia (ictal)
Vertigo (ictal)
Vertigo
Vomiting (ictal)
Show more (+3)
n.a.
p.Gln736*: het
No
n.a.
n.a.
1
2
n.a.
Tonic upgaze
Ataxia (ictal)
Gait ataxia
-Gait ataxia (interictal)
Tonic upgaze (ictal)
Ataxia
Show more (+3)
Tonic upgaze
p.Gln736*: het
No
n.a.
n.a.
9
37
n.a.
Vertigo
Vomiting (ictal)
Vomiting
Headache
Vertigo (ictal)
Nausea (ictal)
Ataxia
Ataxia (ictal)
Nausea
Emotional stress trigger
Show more (+7)
n.a.
p.Gln736*: het
No
n.a.
n.a.
1
10
n.a.
Hyperhidrosis
Ataxia (ictal)
Ataxia
Dystonia (any or unspecified)
Vomiting (ictal)
Vomiting
-Dystonia (ictal)
Show more (+4)
n.a.
p.Gln736*: het
No
n.a.
n.a.
n.a.
44
n.a.
Vertigo (ictal)
Fatigue (ictal)
Ataxia (ictal)
Ataxia
Vertigo
Show more (+2)
n.a.
p.Gln736*: het
Yes
n.a.
n.a.
1
15
n.a.
Vomiting (ictal)
Nystagmus (interictal)
Vertigo
Ataxia (ictal)
Tonic upgaze
Ataxia
Tonic upgaze (ictal)
Vertigo (ictal)
Nystagmus
Vomiting
Show more (+7)
n.a.
p.Gln736*: het