| 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.
|
Seizures (ictal)
Seizures Fatigue Cognitive impairment Spasticity Cognitive impairment (interictal) Global development delay Delayed cognitive development Muscular hypotonia Microcephaly Tremor (any or unspecified) Show more (+8) |
n.a.
|