Byers, 2016: 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.
3
6
n.a.
Seizures
Seizures (interictal)
Muscular hypotonia (interictal)
Ataxia (ictal)
Gait ataxia
Ataxia
-Gait ataxia (interictal)
Cognitive impairment
Cognitive impairment (interictal)
Muscular hypotonia
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n.a.