Ohba, 2013: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
20
|
n.a.
|
Seizures
Seizures (interictal) Cognitive impairment (interictal) Cognitive impairment Muscular hypotonia (interictal) Muscular hypotonia Tremor (any or unspecified) Ataxia Ataxia (interictal) Apraxia Extensor plantar response -Limb ataxia (interictal) Dysarthria Cerebellar atrophy -Tremor (interictal) Dysarthria (interictal) Ataxia, limb Show more (+14) |
Seizures
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
8
|
n.a.
|
Cerebellar atrophy
Apraxia Cognitive impairment Tremor (any or unspecified) -Tremor (interictal) Cognitive impairment (interictal) Seizures Ataxia (interictal) Muscular hypotonia (interictal) -Limb ataxia (interictal) Muscular hypotonia Seizures (interictal) Hemiplegia Ataxia, limb Ataxia Show more (+12) |
n.a.
|