Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Klasyfikacja Disease 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl