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