Jouvenceau, 2001: 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.
8
11
n.a.
Ataxia (ictal)
Ataxia, limb
Nystagmus
Ataxia
Diplopia
Gait ataxia
-Gait ataxia (ictal)
Dysarthria (ictal)
Cognitive impairment
Seizures
Diplopia (ictal)
Seizures (interictal)
-Gait ataxia (interictal)
Dysarthria
Nystagmus (interictal)
-Limb ataxia (interictal)
Show more (+13)
n.a.
p.Arg1819*: het