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