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