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