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