Petrovicova, 2017: 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.
SVK
3
21
n.a.
Nystagmus
Ataxia (ictal)
Nausea (ictal)
Myokymia (interictal)
Myokymia
Gait ataxia
Diplopia
Emotional stress trigger
Seizures
Diplopia (ictal)
Dysarthria
Muscle weakness
Migraine
Ataxia
Muscle weakness (interictal)
Seizures (ictal)
Dysarthria (ictal)
Nausea
-Gait ataxia (ictal)
Show more (+16)
n.a.
No
n.a.
SVK
17
53
n.a.
Cognitive impairment
-Muscle weakness (ictal)
Diplopia (ictal)
Myokymia
Ataxia (ictal)
Ataxia
Diplopia
Nystagmus
Migraine
Muscle weakness
Show more (+7)
n.a.
No
n.a.
SVK
13
46
n.a.
Ataxia (interictal)
Nausea (ictal)
Muscle weakness
-Gait ataxia (interictal)
Muscle weakness (interictal)
Myokymia
Muscular hypotonia
Ataxia (ictal)
Depression (interictal)
Dysarthria (ictal)
Dysarthria
Nausea
Gait ataxia
Ataxia
Muscular hypotonia (interictal)
Cognitive impairment
Show more (+13)
n.a.