| 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.
|
Myoclonus
Trigger: Exercise Attacks – bilateral Delayed cognitive development Ataxia Epileptic seizures (of any type) Dystonia Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
7
|
n.a.
|
Delayed cognitive development
Dystonia Epileptic seizures (of any type) Attacks – bilateral Trigger: Exercise Show more (+2) |
n.a.
|