Encefalopatia padaczkowa zależna od KCNQ2

Kod Orpha: 439218Kod OMIM: 613720

Definicja

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.

Dane
Klasyfikacja

Choroba

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

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