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