| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
3
|
29
|
Yes
|
Dysarthria (interictal)
Seizures Cerebellar atrophy -Limb ataxia (interictal) Muscle weakness Dysarthria Cognitive impairment subdomain Ataxia (interictal) Ataxia, limb Vertigo -Gait ataxia (interictal) Myokymia Cognitive impairment Ataxia Gait ataxia Muscle stiffness Tremor (any or unspecified) Vertigo (ictal) Show more (+15) |
Seizures
Vertigo |
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
4
|
Yes
|
Ataxia
Myokymia Cognitive impairment Muscle stiffness Seizures Gait ataxia Cognitive impairment subdomain Show more (+4) |
Seizures
|