%0 Article
%A , 
%A , 
%A , 
%A , 
%A Л.Б. Новикова, 
%A А.П. Акопян, 
%A Р.Ф. Латыпова, 
%A Н.М. Файзуллина, 
%T Случаи фармакорезистентной эпилепсии при хромосомной патологии
%D 2024
%R 10.17749/2077-8333/epi.par.con.2024.187
%X Two cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial skull microanomaly. In the second case, it was expressed in tonic epileptic seizures, delayed psycho-verbal development, developmental microanomalies, pyramidal atactic syndrome and hand joint hypermobility. Such clinical observations are of professional and scientific interest, as they relate to a rare neurological pathology, with drug-resistant epilepsy as a leading sign. © 2024 IRBIS LLC. All rights reserved.
%U https://repo.bashgmu.ru/publication/4555