epileptic encephalopathy—early infantile—2

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epileptic encephalopathy—early infantile—22016-11-25T19:46:50+00:00

epileptic encephalopathy—early infantile—2

NEUROLOGY

A severe form (OMIM:300672) of epilepsy characterised by seizures or spasms beginning in infancy, often accompanied by Rett syndrome-like features, including microcephaly, lack of speech development, stereotypic hand movements

Molecular pathology Defects in CDKL5, which encodes a serine/threonine protein kinase,  cause epileptic encephalopathy—early infantile—2

Synonyms Atypical CDKL5-related Rett syndrome, EIEE2, infantile spasm syndrome—X-linked 2, ISSX2, Rett syndrome—atypical—CDKL-related, Rett syndrome—variant—with infantile spasm 

References http://www.uniprot.org/uniprot/O76039À

http://www.omim.org/entry/300672

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