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
|
Visual blurring
-Limb ataxia (interictal) Gait ataxia Ataxia (interictal) Dysarthria (ictal) Episodia ataxia Dysarthria Headache Vertigo Ataxia, limb Ataxia Vertigo (ictal) -Gait ataxia (ictal) -Visual blurring (ictal) Ataxia (ictal) Show more (+12) |
Episodia ataxia
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
26
|
Yes
|
Ataxia (ictal)
Muscle cramps Ataxia Gait ataxia Tremor (any or unspecified) -Tremor (interictal) -Tremor (ictal) -Gait ataxia (ictal) Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
49
|
Yes
|
Tremor (any or unspecified)
Ataxia Headache Ataxia, limb Hand twitching Seizures -Tremor (interictal) Dizziness -Limb ataxia (interictal) Muscle cramps Ataxia (ictal) Gait ataxia -Gait ataxia (ictal) Show more (+10) |
Hand twitching
Muscle cramps |
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
50
|
Yes
|
Episodia ataxia
-Tremor (interictal) -Gait ataxia (ictal) Gait ataxia Ataxia Ataxia (ictal) -Limb ataxia (interictal) Tremor (any or unspecified) Ataxia, limb Show more (+6) |
Episodia ataxia
|
|
No
|
♀
|
n.a.
|
n.a.
|
12
|
22
|
Yes
|
Dizziness
-Gait ataxia (ictal) Ataxia, limb Tremor (any or unspecified) Ataxia (ictal) Ataxia Episodia ataxia Muscle cramps -Tremor (interictal) Gait ataxia Show more (+7) |
Episodia ataxia
|