@article{2024-11-27,
author = {, , , ,  Л.Б. Новикова,  А.П. Акопян,  Р.Ф. Латыпова,  Н.М. Файзуллина},
title = {Случаи фармакорезистентной эпилепсии при хромосомной патологии},
year = {2024},
doi = {10.17749/2077-8333/epi.par.con.2024.187},
publisher = {NP «NEICON»},
abstract = {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.},
URL = {https://repo.bashgmu.ru/publication/4555},
eprint = {https://repo.bashgmu.ru/files/4731},
}