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