%0 Case Reports
%T Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report.
%A Parravicini S
%A Pasca L
%A Zanaboni MP
%A Varesio C
%A Rognone E
%A Totaro M
%A Gana S
%A Rossi E
%A De Giorgis V
%J J Pediatr Genet
%V 12
%N 3
%D 2023 Sep
%M 37575645
暂无%R 10.1055/s-0041-1726281
%X Ring chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Recent studies support a possible role of the dopaminergic system in the epileptogenesis of this syndrome. We report the case of a 13-year-old female with mosaic r(20) who showed typical disease onset and evolution and a remarkable electroclinical improvement with zonisamide. Epilepsy related to r(20) is often medically intractable. When valproate and lamotrigine are not effective, zonisamide could be further investigated as a therapeutic option, since it acts as antifocal and it has a potential role in the prevention of dopamine depletion.