epileptic encephalopathy, early infantile type 2(redirected from Rett syndrome variant with infantile spasm)
epileptic encephalopathy, early infantile type 2A 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.
Defects in CDKL5, which encodes a serine/threonine protein kinase, cause early infantile epileptic encephalopathy early infantile type 2.
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