Travaglini, 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.
2
11
n.a.
Hemiplegia
Cognitive impairment (interictal)
Cerebellar atrophy
Ataxia
Ataxia (interictal)
Migraine
-Hemiplegia (interictal)
Cognitive impairment
Show more (+5)
n.a.
Yes
n.a.
n.a.
0
5
n.a.
Tremor (any or unspecified)
-Tremor (interictal)
Cerebellar atrophy
Ataxia (interictal)
Nystagmus
Muscular hypotonia
Migraine
Hemiplegia
Nystagmus (interictal)
-Hemiplegia (interictal)
Cognitive impairment (interictal)
Cognitive impairment
Ataxia
Show more (+10)
n.a.
Yes
n.a.
n.a.
1
9
n.a.
Seizures (interictal)
-Tremor (interictal)
Hemiplegia
Seizures
Migraine
Cerebellar atrophy
Dysarthria (interictal)
Muscular hypotonia (interictal)
-Hemiplegia (interictal)
Ataxia (interictal)
Muscular hypotonia
Cognitive impairment (interictal)
Cognitive impairment
Ataxia
Tremor (any or unspecified)
Dysarthria
Show more (+13)
Muscular hypotonia
Yes
n.a.
n.a.
1
4
n.a.
Cognitive impairment (interictal)
Ataxia (interictal)
Muscular hypotonia
Ataxia
Muscular hypotonia (interictal)
Seizures (interictal)
-Tremor (interictal)
Tremor (any or unspecified)
Cognitive impairment
Seizures
Cerebellar atrophy
Show more (+8)
Seizures