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
|
Dysarthria
Muscle stiffness Myokymia Ataxia -Muscle weakness (ictal) Gait ataxia Tremor (any or unspecified) Ataxia, limb Muscle weakness -Gait ataxia (ictal) -Tremor (interictal) Myokymia (ictal) Ataxia, limb (ictal) Ataxia (ictal) Dysarthria (ictal) Show more (+12) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
60
|
Yes
|
Dysarthria
Dysarthria (ictal) Ataxia (ictal) Gait ataxia Ataxia -Gait ataxia (ictal) Ataxia, limb Ataxia, limb (ictal) Muscle weakness -Muscle weakness (ictal) Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
10
|
33
|
Yes
|
-Muscle weakness (ictal)
Ataxia (ictal) -Tremor (interictal) Muscle weakness -Gait ataxia (ictal) Gait ataxia Ataxia Tremor (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
24
|
Yes
|
Depression
-Tremor (ictal) Ataxia (ictal) Ataxia Ataxia, limb Myokymia Dysarthria (ictal) Dysarthria Myokymia (ictal) -Muscle weakness (ictal) Tremor (any or unspecified) Ataxia, limb (ictal) Visual disturbance -Gait ataxia (ictal) Episodia ataxia Gait ataxia Muscle weakness Show more (+14) |
Dysarthria
Visual disturbance Episodia ataxia |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
53
|
Yes
|
Dysarthria (ictal)
-Tremor (interictal) -Muscle weakness (ictal) Gait ataxia -Gait ataxia (ictal) Ataxia Ataxia, limb Ataxia, limb (ictal) Muscle weakness Dysarthria -Gait ataxia (interictal) Ataxia (ictal) Tremor (any or unspecified) Ataxia (interictal) Show more (+11) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
5
|
17
|
Yes
|
-Muscle weakness (ictal)
Ataxia (ictal) Gait ataxia Dysarthria (ictal) -Gait ataxia (ictal) Dysarthria Muscle weakness Ataxia Show more (+5) |
n.a.
|