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