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