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