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