Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Epileptic seizures (of any type)
Delayed cognitive development Dystonia Speech disturbance Trigger: Exercise Delayed language development Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
23
|
n.a.
|
Epileptic seizures (of any type)
Tremor, action Trigger: Exercise Delayed cognitive development Myoclonus Dystonia Ataxia Show more (+4) |
n.a.
|