17 Л.Б. Новикова А.П. Акопян Р.Ф. Латыпова Н.М. Файзуллина 2024 2024-11-27 10.17749/2077-8333/epi.par.con.2024.187 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. https://repo.bashgmu.ru/publication/4555 https://repo.bashgmu.ru/files/4731