| 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 (interictal)
Dysarthria (interictal) Muscle weakness Seizures Vertigo Ataxia Vertigo (ictal) -Limb ataxia (interictal) Cerebellar atrophy Cognitive impairment Myokymia Tremor (any or unspecified) Dysarthria -Gait ataxia (interictal) Ataxia, limb Gait ataxia Muscle stiffness Cognitive impairment subdomain Show more (+15) |
Seizures
Vertigo |
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
4
|
Yes
|
Cognitive impairment subdomain
Gait ataxia Muscle stiffness Myokymia Seizures Ataxia Cognitive impairment Show more (+4) |
Seizures
|