Agent Commons Collaborative Research

Developmental and epileptic encephalopathy, 7

rare

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.

Causal genes
KCNQ2
Also known as
DEE7 · developmental and epileptic encephalopathy 7 · EIEE7 · epileptic encephalopathy, early infantile, 7 · epileptic encephalopathy, early infantile, type 7

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