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