Tomlinson, 2013: 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.
|
10
|
37
|
Yes
|
Muscle spasms
Muscle stiffness Neuromyotonia (interictal) |
Muscle spasms
Muscle stiffness |
|
Yes
|
♂
|
n.a.
|
n.a.
|
13
|
64
|
Yes
|
Neuromyotonia (interictal)
Gait ataxia -Visual blurring (ictal) -Gait ataxia (ictal) Ataxia, limb (ictal) Visual blurring Ataxia Ataxia, limb Dysarthria Dysarthria (ictal) Ataxia (ictal) Show more (+8) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
4
|
58
|
Yes
|
-Gait ataxia (ictal)
Neuromyotonia (interictal) Ataxia (ictal) Ataxia Ataxia, limb Ataxia, limb (ictal) Dysarthria (ictal) Dysarthria Gait ataxia Show more (+6) |
Ataxia, limb
Dysarthria Gait ataxia |
|
No
|
♀
|
n.a.
|
n.a.
|
14
|
62
|
Yes
|
Dysarthria (ictal)
Gait ataxia Dysarthria Neuromyotonia (interictal) -Gait ataxia (ictal) Ataxia Ataxia (ictal) Show more (+4) |
Gait ataxia
Dysarthria |
|
No
|
♀
|
n.a.
|
n.a.
|
10
|
55
|
Yes
|
Ataxia, limb (ictal)
Ataxia (ictal) Ataxia, limb Ataxia -Gait ataxia (ictal) Gait ataxia Show more (+3) |
Ataxia, limb
Gait ataxia |
|
No
|
♀
|
n.a.
|
n.a.
|
6
|
35
|
Yes
|
Ataxia, limb
-Gait ataxia (ictal) Dysarthria Neuromyotonia (interictal) Muscle stiffness Ataxia (ictal) Ataxia, limb (ictal) Dysarthria (ictal) Ataxia Gait ataxia Show more (+7) |
Ataxia, limb
Dysarthria Gait ataxia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
30
|
Yes
|
Ataxia, limb (ictal)
-Spasticity (ictal) Neuromyotonia (interictal) Gait ataxia Spasticity -Gait ataxia (ictal) Seizures (ictal) Ataxia (ictal) Dysarthria (ictal) Ataxia, limb Dysarthria Seizures Ataxia Show more (+10) |
Gait ataxia
Ataxia, limb Dysarthria |
|
No
|
♀
|
n.a.
|
n.a.
|
12
|
55
|
Yes
|
-Gait ataxia (ictal)
Ataxia (ictal) Dysarthria Dysarthria (ictal) Ataxia Neuromyotonia (interictal) Muscle weakness Gait ataxia Show more (+5) |
Dysarthria
Gait ataxia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
12
|
29
|
Yes
|
Dysarthria
-Gait ataxia (ictal) Ataxia, limb Gait ataxia Ataxia Muscle stiffness Ataxia, limb (ictal) Neuromyotonia (interictal) Ataxia (ictal) Dysarthria (ictal) Show more (+7) |
Dysarthria
Ataxia, limb Gait ataxia |
|
No
|
♀
|
n.a.
|
n.a.
|
13
|
37
|
Yes
|
Neuromyotonia (interictal)
Dysarthria Ataxia (ictal) Dysarthria (ictal) -Gait ataxia (ictal) Ataxia Gait ataxia Show more (+4) |
n.a.
|