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