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