Luo, 2017: 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.
n.a.
8
No
Ataxia
Muscular hypotonia (interictal)
Cognitive impairment
Muscular hypotonia
Cognitive impairment (interictal)
Ataxia (interictal)
Ataxia (ictal)
Cerebellar atrophy
Show more (+5)
n.a.
Yes
C
n.a.
n.a.
5
No
Dysarthria (interictal)
Ataxia (interictal)
Cognitive impairment
Dysarthria
Cognitive impairment (interictal)
Muscular hypotonia
-Gait ataxia (interictal)
Muscular hypotonia (interictal)
Ataxia
Gait ataxia
Show more (+7)
n.a.
Yes
H
n.a.
n.a.
5
No
Cognitive impairment (interictal)
Ataxia
Ataxia (ictal)
Cognitive impairment
Ataxia (interictal)
Muscular hypotonia (interictal)
Muscular hypotonia
Show more (+4)
n.a.
Yes
H
n.a.
n.a.
8
No
Ataxia
Cognitive impairment (interictal)
Cerebellar atrophy
Muscular hypotonia (interictal)
Ataxia (interictal)
Cognitive impairment
Muscular hypotonia
-Gait ataxia (interictal)
Dysarthria
Dysarthria (interictal)
Gait ataxia
Show more (+8)
n.a.
Yes
n.a.
n.a.
n.a.
6
No
Cognitive impairment (interictal)
Cognitive impairment
Dysarthria
Muscular hypotonia (interictal)
Ataxia (interictal)
Muscular hypotonia
Dysarthria (interictal)
Ataxia
Show more (+5)
n.a.