Difficulties in the diagnosis, prognosis and treatment of genetic epileptic encephalopathies: the view of a neurologist.

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Summary of "Difficulties in the diagnosis, prognosis and treatment of genetic epileptic encephalopathies: the view of a neurologist."

Genetic epileptic encephalopathies are a rather wide spectrum of childhood epilepsies with onset of epilepsy in the first 1.5-2 years of life, regression or delayed psychomotor and speech development and 'massive' epileptiform activity on electroencephalogram (EEG). The review discusses the difficulties of choosing the optimal method of genetic examination, problems with the interpretation of the results obtained, the formulation of the diagnosis, the determination of the prognosis of the course and targeted therapy. It is emphasized that the interpretation of the identified genetic variants is not an easy task, requiring close interaction between specialists in molecular genetics, bioinformatics, neurology and clinical genetics. The possibilities of targeted treatment of genetic epileptic encephalopathies are still limited, but knowledge of the genetic cause of epilepsy allows making a more informed choice of the treatment.


Journal Details

This article was published in the following journal.

Name: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
ISSN: 1997-7298
Pages: 34-40


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