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A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor
- Source :
- Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100405- (2021)
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
-
Abstract
- We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the genetic basis for a phenotype involving a non-progressive generalized epilepsy with tremor. The efficacy of valproic acid for seizure control and the partial efficacy of deep brain stimulation with propranolol for myoclonic tremor is detailed.
Details
- Language :
- English
- ISSN :
- 25899864
- Volume :
- 15
- Issue :
- 100405-
- Database :
- Directory of Open Access Journals
- Journal :
- Epilepsy & Behavior Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.335f8918569a4a68a1b7f98284cd26eb
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.ebr.2020.100405