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