Imbrici, 2008: Overview of all reported PxMD-KCNA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
ITA
1
n.a.
Yes
Ataxia
Dysarthria
Ataxia (ictal)
Seizures
Dysarthria (ictal)
Show more (+2)
n.a.
No
C
ITA
25
n.a.
Yes
Myokymia (interictal)
Dysarthria (ictal)
Myokymia (ictal)
Ataxia (ictal)
Myokymia
Dysarthria
Ataxia
Show more (+4)
n.a.
Yes
C
ITA
26
n.a.
Yes
Slurred speech
-Rigidity (ictal)
-Gait ataxia (ictal)
Cerebellar ataxia
Dysarthria
Gait ataxia
Myokymia
Ataxia (ictal)
Rigidity
Ataxia
Neuromyotonia (interictal)
Rigidity, leg
Myokymia (ictal)
Myokymia (interictal)
Dysarthria (ictal)
Show more (+12)
Slurred speech
Cerebellar ataxia
Rigidity, leg
No
C
ITA
25
n.a.
Yes
Myokymia (interictal)
Dysarthria
Ataxia (ictal)
Myokymia
Myokymia (ictal)
Ataxia
Dysarthria (ictal)
Show more (+4)
n.a.