Autoszomális domináns
Caused by changes in one copy of the CSNK2B gene, which makes the regulatory part of protein kinase CK2, an enzyme with many roles in brain cells. Most changes arise de novo.
Tünetek és jelek
Seizures usually begin in the first year or two of life and vary in type and severity. Developmental delay and intellectual disability range from mild to severe, with speech and motor delay, and sometimes low muscle tone in infancy. Short stature is also seen, and some people have finger or toe differences.
Mit változtat a diagnózis
Seizure treatment, which is effective for many, and developmental, speech and educational support. Most cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
POBINDS
