García, 2014: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
n.a.
|
1
|
13
|
n.a.
|
Muscular hypotonia (interictal)
Vomiting Ataxia (interictal) -Dystonia (ictal) Vomiting (ictal) Dystonia (any or unspecified) Migraine Headache Headache (ictal) Ataxia (ictal) -Limb ataxia (interictal) Cerebellar atrophy Gait ataxia Nystagmus (interictal) Muscular hypotonia Dysarthria (interictal) Hemiplegia Dysarthria Seizures Seizures (ictal) Ataxia Coma -Hemiplegia (ictal) Nystagmus Ataxia, limb -Gait ataxia (interictal) Apraxia Decreased level of consciousness Show more (+25) |
n.a.
|