| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
34
|
Yes
|
Anxiety panic attacks
Myoclonus,generalized Developmental delay Myoclonus, Upper Limb Developmental regression Dystonia, task-specific Obssesive Compulsive Disorder Myoclonus, cervical Tremor (any or unspecified) Cognitive impairment Myoclonus, lower limb Dystonia, truncal Myoclonus, axial Depression Dystonia (any or unspecified) Myoclonus Show more (+13) |
Myoclonus, Upper Limb
Myoclonus, lower limb Myoclonus, axial |