| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
3
|
n.a.
|
Dysphagia
Ptosis Ataxia (ictal) Muscular hypotonia Muscular hypotonia (ictal) -Muscle weakness (ictal) Muscle weakness Ataxia Global development delay Show more (+6) |
n.a.
|