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