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