| 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.
|
Muscular hypotonia
Seizures (interictal) Ataxia (ictal) Cognitive impairment (interictal) Muscular hypotonia (interictal) Ataxia Seizures Gait ataxia -Gait ataxia (interictal) Cognitive impairment Show more (+7) |
n.a.
|