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