KCNQ2-related epileptic encephalopathy

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KCNQ2-related epileptic encephalopathy

Synonyms: KCNQ2-NEE | KCNQ2-related neonatal epileptic encephalopathy

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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