Scoggan, 2001: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
2
29
n.a.
Muscle weakness
Ataxia, limb
Vomiting
Headache (ictal)
Vomiting (ictal)
Vertigo
Vertigo (ictal)
Ataxia (ictal)
Nystagmus (ictal)
Headache
-Muscle weakness (ictal)
Dysarthria (ictal)
Nystagmus
Ataxia
Gait ataxia
Nausea
Ataxia, limb (ictal)
Dysarthria
Nausea (ictal)
-Gait ataxia (interictal)
Show more (+17)
n.a.
p.Ser940Glnfs*128: comp_het
Yes
n.a.
n.a.
14
43
n.a.
Ataxia, limb (ictal)
Nystagmus (interictal)
Ataxia, limb
Ataxia
Diplopia (interictal)
Emotional stress trigger
Nystagmus
Diplopia
Headache (interictal)
Headache
Ataxia (ictal)
Physical stress trigger
Show more (+9)
n.a.