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