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