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