Brownstein, 2016: Overview of all reported PxMD-KCNA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
58
|
Yes
|
Ataxia, limb (ictal)
Ataxia (ictal) Ataxia, limb Dysarthria -Muscle weakness (ictal) -Tremor (interictal) Myokymia Dysarthria (ictal) Gait ataxia Myokymia (ictal) -Gait ataxia (ictal) Muscle weakness Tremor (any or unspecified) Ataxia Muscle stiffness Show more (+12) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
60
|
Yes
|
-Gait ataxia (ictal)
Ataxia, limb Ataxia, limb (ictal) Dysarthria (ictal) Muscle weakness Gait ataxia Ataxia (ictal) -Muscle weakness (ictal) Ataxia Dysarthria Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
33
|
Yes
|
-Gait ataxia (ictal)
-Tremor (interictal) Tremor (any or unspecified) Ataxia Muscle weakness Gait ataxia Ataxia (ictal) -Muscle weakness (ictal) Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
24
|
Yes
|
Ataxia
Depression Ataxia, limb (ictal) Visual disturbance Dysarthria (ictal) Tremor (any or unspecified) Ataxia (ictal) -Muscle weakness (ictal) Muscle weakness Gait ataxia -Tremor (ictal) Myokymia (ictal) Dysarthria Myokymia Episodia ataxia -Gait ataxia (ictal) Ataxia, limb Show more (+14) |
Visual disturbance
Dysarthria Episodia ataxia |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
53
|
Yes
|
Ataxia (interictal)
Dysarthria (ictal) Ataxia, limb Ataxia (ictal) Ataxia -Muscle weakness (ictal) -Tremor (interictal) Tremor (any or unspecified) -Gait ataxia (interictal) -Gait ataxia (ictal) Ataxia, limb (ictal) Muscle weakness Dysarthria Gait ataxia Show more (+11) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
5
|
17
|
Yes
|
-Gait ataxia (ictal)
Muscle weakness Dysarthria (ictal) Gait ataxia -Muscle weakness (ictal) Ataxia Ataxia (ictal) Dysarthria Show more (+5) |
n.a.
|