Literature DB >> 23647528

Treating Fragile X syndrome with the diuretic bumetanide: a case report.

Eric Lemonnier1, Gaëlle Robin, Céline Degrez, Roman Tyzio, Marine Grandgeorge, Yehezkel Ben-Ari.   

Abstract

UNLABELLED: We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX.
CONCLUSION: 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. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

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Year:  2013        PMID： 23647528     DOI： 10.1111/apa.12235

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  25 in total

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5.  KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome.

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7.  Subsequent maternal separation exacerbates neurobehavioral abnormalities in rats neonatally exposed to sevoflurane anesthesia.

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Review 8.  The role of GABAergic signalling in neurodevelopmental disorders.

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Journal:  Nat Rev Neurosci       Date:  2021-03-26       Impact factor: 34.870

9.  Phenobarbital, midazolam, bumetanide, and neonatal seizures: The devil is in the details.

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10.  A Methyltransferase Inhibitor (Decitabine) Alleviates Intergenerational Effects of Paternal Neonatal Exposure to Anesthesia With Sevoflurane.

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