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