García, 2014: 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.
1
13
n.a.
Headache (ictal)
Muscular hypotonia (interictal)
Dysarthria
Nystagmus (interictal)
Ataxia, limb
Gait ataxia
-Gait ataxia (interictal)
-Limb ataxia (interictal)
Dystonia (any or unspecified)
Decreased level of consciousness
Nystagmus
Ataxia (interictal)
Dysarthria (interictal)
Apraxia
Ataxia
Seizures (ictal)
Muscular hypotonia
-Dystonia (ictal)
Cerebellar atrophy
Migraine
Vomiting
Ataxia (ictal)
Vomiting (ictal)
Headache
Coma
Seizures
Hemiplegia
-Hemiplegia (ictal)
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n.a.