Статья

Случаи фармакорезистентной эпилепсии при хромосомной патологии

Novikova, L.B., Akopyan, A.P., Latypova, R.F., Faizullina, N.M., Л.Б. Новикова, А.П. Акопян, Р.Ф. Латыпова, Н.М. Файзуллина
2024

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.

Л.Б. Новикова, А.П. Акопян, Р.Ф. Латыпова, Н.М. Файзуллина Случаи фармакорезистентной эпилепсии при хромосомной патологии. 2024; https://doi.org/10.17749/2077-8333/epi.par.con.2024.187
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