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