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