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