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