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
Dysarthria
Seizures
Ataxia (ictal)
Dysarthria (ictal)
Ataxia
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n.a.
No
C
ITA
25
n.a.
Yes
Myokymia (ictal)
Ataxia (ictal)
Myokymia (interictal)
Dysarthria
Myokymia
Ataxia
Dysarthria (ictal)
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n.a.
Yes
C
ITA
26
n.a.
Yes
Ataxia (ictal)
Dysarthria
Myokymia (ictal)
Cerebellar ataxia
Slurred speech
Neuromyotonia (interictal)
-Rigidity (ictal)
Myokymia
Dysarthria (ictal)
-Gait ataxia (ictal)
Ataxia
Gait ataxia
Myokymia (interictal)
Rigidity
Rigidity, leg
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Cerebellar ataxia
Slurred speech
Rigidity, leg
No
C
ITA
25
n.a.
Yes
Dysarthria
Ataxia
Myokymia (interictal)
Dysarthria (ictal)
Myokymia
Myokymia (ictal)
Ataxia (ictal)
Show more (+4)
n.a.