Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
10
|
10
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
9
|
n.a.
|
Delayed cognitive development
Ataxia Attacks – bilateral Dystonia Epileptic seizures (of any type) Myoclonus Trigger: Exercise Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
7
|
n.a.
|
Epileptic seizures (of any type)
Trigger: Exercise Attacks – bilateral Delayed cognitive development Dystonia Show more (+2) |
n.a.
|