epileptic encephalopathy, early infantile type 2
epileptic encephalopathy, early infantile type 2
A severe form of epilepsy (OMIM:300672) characterised by seizures or spasms beginning in infancy, often accompanied by Rett syndrome-like features including microcephaly, lack of speech development and stereotypic hand movements.Molecular pathology
Defects in CDKL5, which encodes a serine/threonine protein kinase, cause early infantile epileptic encephalopathy early infantile type 2.