Mestre, 2016: Overview of all reported PxMD-KCNA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
n.a.
n.a.
10
18
Yes
Ataxia
Ataxia (interictal)
Dysarthria (ictal)
-Gait ataxia (ictal)
Vertigo (ictal)
Ataxia, limb
-Limb ataxia (interictal)
Gait ataxia
Headache
Ataxia (ictal)
Episodia ataxia
Visual blurring
Vertigo
-Visual blurring (ictal)
Dysarthria
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Episodia ataxia
No
♀
n.a.
n.a.
n.a.
26
Yes
Ataxia
Tremor (any or unspecified)
Gait ataxia
-Tremor (interictal)
-Tremor (ictal)
Muscle cramps
-Gait ataxia (ictal)
Ataxia (ictal)
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n.a.
No
♀
n.a.
n.a.
n.a.
49
Yes
Seizures
Dizziness
-Gait ataxia (ictal)
Ataxia (ictal)
Tremor (any or unspecified)
Hand twitching
Headache
Ataxia
Ataxia, limb
Muscle cramps
-Limb ataxia (interictal)
Gait ataxia
-Tremor (interictal)
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Hand twitching
Muscle cramps
No
♂
n.a.
n.a.
n.a.
50
Yes
Gait ataxia
Tremor (any or unspecified)
-Tremor (interictal)
Ataxia (ictal)
Ataxia, limb
-Limb ataxia (interictal)
Episodia ataxia
-Gait ataxia (ictal)
Ataxia
Show more (+6)
Episodia ataxia
No
♀
n.a.
n.a.
12
22
Yes
Episodia ataxia
Gait ataxia
Muscle cramps
-Gait ataxia (ictal)
Ataxia (ictal)
Ataxia, limb
-Tremor (interictal)
Tremor (any or unspecified)
Dizziness
Ataxia
Show more (+7)
Episodia ataxia