epileptic encephalopathy, early infantile type 2

(redirected from atypical CDKL5-related Rett syndrome)

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.
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