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- Title
A case of drug-resistant epilepsy associated with ring chromosome 20.
- Authors
Balabhadra, Anvesh; Parekh, Mihir; Patil, Anuja; Jayalakshmi, Sita
- Abstract
The article describes the case of a 21-year-old girl evaluated for drug-resistant epilepsy (DRE) associated with ring chromosome 20. Topics discussed include findings on her video electroencephalogram (EEG), reason for considering a possibility of R20 syndrome, and clinical characteristics of R20 syndrome, including DRE, mental disability, and multiple episodes of non-convulsive status epilepticus (NCSE).
- Subjects
DIAGNOSIS of epilepsy; GENETICS of epilepsy; LAMOTRIGINE; ELECTROENCEPHALOGRAPHY; EPILEPSY; DRUG resistance; GENETIC testing; MAGNETIC resonance imaging; TREATMENT effectiveness; CHROMOSOME abnormalities; VALPROIC acid
- Publication
Annals of Indian Academy of Neurology, 2021, Vol 24, Issue 5, p805
- ISSN
0972-2327
- Publication type
Article
- DOI
10.4103/aian.AIAN_1292_20