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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7786037 | PMC |
http://dx.doi.org/10.1016/j.ebr.2020.100405 | DOI Listing |
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