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.
|
Nystagmus
Seizures Nystagmus (interictal) Headache Vomiting (ictal) Coma Decreased level of consciousness Migraine Ataxia (ictal) Apraxia -Gait ataxia (interictal) Muscular hypotonia (interictal) -Limb ataxia (interictal) Dysarthria (interictal) Ataxia Vomiting Cerebellar atrophy -Dystonia (ictal) Hemiplegia Dysarthria Ataxia (interictal) Gait ataxia Headache (ictal) Ataxia, limb Muscular hypotonia Seizures (ictal) -Hemiplegia (ictal) Dystonia (any or unspecified) Show more (+25) |
n.a.
|