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