Lee, 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.
5
22
n.a.
Saccadic smooth pursuit
Nystagmus
Nystagmus (interictal)
Dysarthria
Ataxia
Ataxia (ictal)
Dysarthria (interictal)
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n.a.
p.Tyr1282*: het