27.05.2018

Mutation of the STXBP1 gene or early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome in patients leads to severe, sporadic and non-syndromic mental developmen delay.

 

Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of age-related encephalopathy. The syndromes of West and Lennox-Gastaut belong to the same group of diseases.

This rare syndrome is characterized by:

• onset in the first months of life

• frequent tonic spasms (suppression-burst at the electroencephalogram)

• marked delay in physical and cognitive development

• metabolic diseases (in some patients)

Cosmosuit specialists recommend an appropriate rehabilitation program, including therapies for the development of motor and cognitive skills.

Подвал (шаблон) (англ)