| 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
Muscle weakness Muscular hypotonia Ataxia (ictal) -Muscle weakness (ictal) Ptosis Ataxia Global development delay Muscular hypotonia (ictal) Show more (+6) |
n.a.
|