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