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