Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
12
|
n.a.
|
Trigger: Exercise
Ataxia Delayed language development Epileptic seizures (of any type) Developmental regression Speech disturbance Trigger: Sleep deprivation Delayed cognitive development Delayed motor development Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
15
|
n.a.
|
Epileptic seizures (of any type)
Attacks - face Postural tremor Attacks – bilateral Delayed cognitive development Speech disturbance Developmental regression Trigger: Exercise Trigger: Sleep deprivation Show more (+6) |
n.a.
|