Autoszomális domináns
Caused by gain-of-function changes in one copy of KCNH1, a potassium channel in nerve cells. De novo variants are associated with epileptic encephalopathy, while inherited or mosaic variants have been linked to isolated epilepsy or febrile seizures.
Tünetek és jelek
Developmental delay, intellectual disability and epilepsy are common. Thumb and skeletal anomalies, and nail hypoplasia or aplasia, are reported. Facial dysmorphism is also a feature.
Mit változtat a diagnózis
Seizure management by a neurologist, developmental and educational support. Genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Temple-Baraitser syndrome
- Zimmermann-Laband syndrome 1
MONDO:0100485Források: [1][2][3]
