Bahamonde, 2015: 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
ESP
7
7
n.a.
Ataxia, limb
Ataxia
Motor developmental delay
Muscular hypotonia
Muscular hypotonia (interictal)
Ataxia (interictal)
Nystagmus (interictal)
Nystagmus
-Limb ataxia (interictal)
Cognitive impairment
Cerebellar atrophy
Cognitive impairment (interictal)
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n.a.