Fragile X syndrome and epilepsy

LF Qiu, YH Hao, QZ Li, ZQ Xiong - Neuroscience bulletin, 2008 - ncbi.nlm.nih.gov
Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly
caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding …

Epilepsy in fragile X syndrome

E Berry-Kravis - Developmental medicine and child neurology, 2002 - cambridge.org
Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A
frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of …

Decreased GABAA receptor expression in the seizure-prone fragile X mouse

A El Idrissi, XH Ding, J Scalia, E Trenkner, WT Brown… - Neuroscience …, 2005 - Elsevier
The fragile X mental retardation syndrome is due to the transcriptional silence of the fragile X
gene, FMR1, and to the resulting loss of the FMR1 product, FMRP. The pathogenesis of the …

An “omic” overview of fragile X syndrome

O Dionne, F Corbin - Biology, 2021 - mdpi.com
Simple Summary Fragile X syndrome (FXS) is a neurodevelopmental disorder and remains
the most frequent inherited cause of intellectual disability. Fragile X patients are at great risk …

Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?

M Tondo, P Poo, M Naudó, T Ferrando, J Genovés… - Epilepsy & Behavior, 2011 - Elsevier
Epilepsy is detected in about 23% of patients with fragile X syndrome (FXS). Absence or
reduced levels of the fragile X mental retardation protein (FMRP), a global regulator of …

Developmental studies in fragile X syndrome

KA Razak, KC Dominick, CA Erickson - Journal of neurodevelopmental …, 2020 - Springer
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual
disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures …

The molecular biology of FMRP: new insights into fragile X syndrome

JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …

Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P

RL Coffee Jr, CR Tessier… - Disease models & …, 2010 - journals.biologists.com
Fragile X syndrome (FXS), resulting solely from the loss of function of the human fragile X
mental retardation 1 (hFMR1) gene, is the most common heritable cause of mental …

Genes and pathways differentially expressed in the brains of Fxr2 knockout mice

S Cavallaro, S Paratore, F Fradale, FMS de Vrij… - Neurobiology of …, 2008 - Elsevier
Fragile X syndrome is a common inherited form of mental retardation and originates from the
absence of expression of the FMR1 gene. This gene and its two homologues, FXR1 and …

[引用][C] Understanding Fragile X syndrome: molecular, cellular and genomic neuroscience at the crossroads*

SO Moldin - Genes, Brain and Behavior, 2005 - Wiley Online Library
Fragile X syndrome (FXS) is the most common inherited form of human mental retardation,
with an estimated prevalence of one in 4000 boys and one in 8000 girls (Warren & Sherman …