Work

Rett syndrome: criteria for diagnosis, course, prognosis (description of a clinical case)

Year: 2024

Type: article

Abstract: Rett syndrome is a progressive neurodegenerative disease caused by a mutation in the MESP2 gene. To make a diagnosis, the main and additional criteria of the disease are used, as well as molecular genetic methods confirming the mutation. This article presents a clinical case of Rett syndrome, describes the main approaches to therapy and features of patient curation.

Source: Российский нейрохирургический журнал им профессора А Л Поленова

DOI: 10.56618/2071-2693_2024_16_4_203

Authors: L. M. Shchugareva, O. V. Poteshkina, A. P. Skoromets

Institution: North-Western State Medical University named after I.I. Mechnikov

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4411539146

FWCI: 0.482

Cites: 11

Cited by: 2

Related to: 10