Bahamonde, 2015: 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
|
ESP
|
7
|
7
|
n.a.
|
Motor developmental delay
Nystagmus (interictal) -Limb ataxia (interictal) Ataxia Muscular hypotonia (interictal) Cerebellar atrophy Muscular hypotonia Cognitive impairment Ataxia (interictal) Ataxia, limb Cognitive impairment (interictal) Nystagmus Show more (+9) |
n.a.
|