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