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