epileptic encephalopathy early infantile type 2; atypical CDKL5-related Rett syndrome

Genetics

• associated with defects in CDKL5

Clinical manifestations

• severe form of epilepsy
• seizures or spasms beginning in infancy
• patients manifest features resembling Rett syndrome such as
  • microcephaly
  • lack of speech development
  • stereotypic hand movements

More general terms

• epilepsy
• Rett syndrome

Database

• OMIM: https://mirror.omim.org/entry/300672