| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
23
|
n.a.
|
Muscle weakness
Headache (ictal) Nystagmus (interictal) Ataxia (ictal) Vomiting (ictal) Ataxia Tonic upgaze Cerebellar atrophy Vomiting -Muscle weakness (ictal) Nystagmus Headache Show more (+9) |
Tonic upgaze
|