developmental and epileptic encephalopathy, 7
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
DEE7
exact
EIEE7
exact
KCNQ2-NEE
exact
KCNQ2-related disorders
related
developmental and epileptic encephalopathy 7
exact
epileptic encephalopathy, early infantile, 7
exact
epileptic encephalopathy, early infantile, type 7
exact