Riant, 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
|
♀
|
C
|
n.a.
|
2
|
n.a.
|
n.a.
|
Nystagmus
Muscular hypotonia Cognitive impairment Motor developmental delay Decreased level of consciousness Ataxia Headache Seizures Migraine Hemiplegia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
Motor developmental delay
Ataxia Decreased level of consciousness Cognitive impairment Nystagmus Migraine Headache Hemiplegia Muscular hypotonia Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
1
|
n.a.
|
n.a.
|
Seizures
Motor developmental delay Migraine Headache Ataxia Hemiplegia Nystagmus Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
Hemiplegia
Cognitive impairment Motor developmental delay Headache Migraine Ataxia Nystagmus Muscular hypotonia Seizures Show more (+6) |
n.a.
|