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