| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
7
|
n.a.
|
Spasticity
Seizures Seizures (ictal) Cognitive impairment (interictal) Microcephaly Muscular hypotonia Global development delay Tremor (any or unspecified) Fatigue Delayed cognitive development Cognitive impairment Show more (+8) |
n.a.
|