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