Phenobarbital use and neurological problems in FMR1 premutation carriers

Neurotoxicology
Wilmar SaldarriagaFlora Tassone

Abstract

Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a CGG expansion in the FMR1 gene located at Xq27.3. Patients with the premutation in FMR1 present specific clinical problems associated with the number of CGG repeats (55-200 CGG repeats). Premutation carriers have elevated FMR1 mRNA expression levels, which have been associated with neurotoxicity potentially causing neurodevelopmental problems or neurological problems associated with aging. However, cognitive impairments or neurological problems may also be related to increased vulnerability of premutation carriers to neurotoxicants, including phenobarbital. Here we present a study of three sisters with the premutation who were exposed differentially to phenobarbital therapy throughout their lives, allowing us to compare the neurological effects of this drug in these patients.

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Citations

May 1, 2016·Biological Psychiatry·Randi Hagerman
Jun 24, 2016·The Cerebellum·Reymundo LozanoRandi Hagerman
Jun 25, 2016·Nature Reviews. Neurology·Randi J Hagerman, Paul Hagerman
Jan 31, 2018·Journal of Human Genetics·Wilmar SaldarriagaFlora Tassone
May 8, 2018·Journal of Neurosurgical Anesthesiology·Andrew LigsayRandi Hagerman
Sep 26, 2019·Anais Da Academia Brasileira De Ciências·Jorge F B FerreiraCleiton Fantin
Nov 6, 2018·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Wilmar SaldarriagaRandi J Hagerman
Sep 28, 2016·Intractable & Rare Diseases Research·María J Salcedo-ArellanoWilmar Saldarriaga
Nov 30, 2018·Frontiers in Psychiatry·Randi J HagermanAndrea Schneider

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