| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
6
|
n.a.
|
Gait ataxia
Muscular hypotonia Cognitive impairment Ataxia Muscular hypotonia (interictal) Ataxia (ictal) Cognitive impairment (interictal) -Gait ataxia (interictal) Seizures (interictal) Seizures Show more (+7) |
n.a.
|