Treating <scp>F</scp>ragile <scp>X</scp> syndrome with the diuretic bumetanide: a case report

201354 citationsJournal Article

Authors

Éric Lemonnier · Université de Bretagne Occidentale

Gaëlle Robin · Centre Hospitalier Régional Universitaire de Brest

Céline Degrez · Centre Hospitalier Régional Universitaire de Brest

Roman Tyzio · Inserm

Marine Grandgeorge · Centre Hospitalier Régional Universitaire de Brest

Yehezkel Ben‐Ari · Neurochlore (France)

Abstract

This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Acta Paediatrica

Volume 102, Issue 6, pp. e288-90

DOI: 10.1111/apa.12235

Field-Weighted Citation Impact: 2.95