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