Blumkin, 2010: 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.
|
n.a.
|
0
|
7
|
n.a.
|
Hemiplegia
Nystagmus Muscle weakness Tonic upgaze Seizures Gait ataxia Cerebellar atrophy Ataxia, limb Tremor (any or unspecified) Emotional stress trigger Ataxia Muscular hypotonia Dysarthria Cognitive impairment Vomiting Show more (+12) |
n.a.
|