KCNQ2-related epileptic encephalopathy

Orpha code: 439218OMIM code: 613720

Definition

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.

Disease data
Classification

Disease

Synonyms
KCNQ2-NEE
KCNQ2-NEE
Encefalopatia padaczkowa noworodków zależna od KCNQ2
KCNQ2-related neonatal epileptic encephalopathy
ORPHA code
439218
OMIM code
613720
ICD10 code
G40.4
ICD11 code
-

No additional description.

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