Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report.

dopamine drug-resistant epilepsy ring chromosome 20

Journal

Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859

Informations de publication

Date de publication:
Sep 2023
Historique:
received: 24 07 2020
accepted: 06 02 2021
medline: 1 4 2021
pubmed: 1 4 2021
entrez: 14 8 2023
Statut: epublish

Résumé

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.

Identifiants

DOI: 10.1055/s-0041-1726281 PMID: 37575645 PMC: PMC10421690
pubmed: 37575645
doi: 10.1055/s-0041-1726281
pii: 2000123
pmc: PMC10421690
doi:

Types de publication

Case Reports

Langues

eng

Pagination

219-223

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of Interest None declared.

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Auteurs

Stefano Parravicini (S)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.
Brain and Behaviour Department, University of Pavia, Pavia, Italy.

Ludovica Pasca (L)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.
Brain and Behaviour Department, University of Pavia, Pavia, Italy.

Martina Paola Zanaboni (MP)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.

Costanza Varesio (C)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.
Brain and Behaviour Department, University of Pavia, Pavia, Italy.

Elisa Rognone (E)

Department of Neuroradiology, IRCSS Mondino Foundation, Pavia, Italy.

Martina Totaro (M)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.
Brain and Behaviour Department, University of Pavia, Pavia, Italy.

Simone Gana (S)

Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy.

Elena Rossi (E)

Medical Genetics, IRCCS Mondino Foundation, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Valentina De Giorgis (V)

Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, European Reference Network for Rare and Complex Epilepsies, EpiCARE, Pavia, Italy.

Classifications MeSH