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