Drug-resistant epilepsy cases in chromosomal pathology
https://doi.org/10.17749/2077-8333/epi.par.con.2024.187
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.
About the Authors
L. B. Novikova
Bashkir State Medical University
Russian Federation
Russian Federation
Lilia B. Novikova, Dr. Sci. Med., Prof.
3 Lenin Str., Ufa, 450008
A. P. Akopyan
Bashkir State Medical University
Russian Federation
Russian Federation
Anait P. Akopyan, PhD, Assoc. Prof.
3 Lenin Str., Ufa, 450008
R. F. Latypova
Bashkir State Medical University
Russian Federation
Russian Federation
Raushaniia F. Latypova
3 Lenin Str., Ufa, 450008
N. M. Faizullina
Bashkir State Medical University
Russian Federation
Russian Federation
Nailya M. Faizullina
3 Lenin Str., Ufa, 450008
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Review
For citations:
Novikova L.B., Akopyan A.P., Latypova R.F., Faizullina N.M. Drug-resistant epilepsy cases in chromosomal pathology. Epilepsy and paroxysmal conditions. 2024;16(3):223–230. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2024.187
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