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