PT - JOURNAL ARTICLE
AU - , 
AU - , 
AU - , 
AU - , 
AU - Л.Б. Новикова, 
AU - А.П. Акопян, 
AU - Р.Ф. Латыпова, 
AU - Н.М. Файзуллина, 
TI - Случаи фармакорезистентной эпилепсии при хромосомной патологии
DP - 2024-11-27
4100 - 10.17749/2077-8333/epi.par.con.2024.187
SO - https://repo.bashgmu.ru/publication/4555
AB - 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.