Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Consistent with the observations in humans with FXS, fragile X mental retardation 1 ( Fmr1) gene knockout (KO) rodent models of FXS also show seizures, abnormal visual-evoked responses, auditory hypersensitivity, and abnormal processing at multiple levels of the auditory system, including altered acoustic startle responses.
|
30231625 |
2019 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Specifically, a single early-life seizure increased consecutive nose poking behavior in the task in WT mice (p < 0.05), yet seizures did not exacerbate the elevated stereotypy observed in Fmr1 KO mice (p > 0.05).
|
31520894 |
2019 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Importantly, FMRP loss-of-function leads to Fragile X syndrome (FXS), a rare genetic developmental condition causing a range of neurological alterations including intellectual disability (ID), learning and memory impairments, autistic-like features and seizures.
|
31822816 |
2019 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Loss of regulated Cav2.3 expression could underlie the neuronal hyperactivity and aberrant calcium spiking in FMRP KO mice and contribute to FXS, potentially serving as a novel target for future therapeutic strategies.<b>SIGNIFICANCE STATEMENT</b> Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, attention deficit disorder, and seizures.
|
31350260 |
2019 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
|
25561520 |
2015 |
Seizures
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety.
|
24831882 |
2014 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
However, little is known about the rate of seizures and how commonly these problems co-occur with ASD in boys with the FMR1 premutation.
|
22001913 |
2012 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome.
|
20809278 |
2010 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Kindling development was dramatically accelerated in Fmr1 KO mice, and Fmr1 KO mice also displayed prolonged electrographic seizures during kindling and more severe mossy fiber sprouting after kindling.
|
18832330 |
2009 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
MPEP reduces seizure severity in Fmr-1 KO mice over expressing human Abeta.
|
19918329 |
2009 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The Fmr1 knockout (KO) mouse is characterized by an increased audiogenic seizure (AGS) susceptibility and is considered a good animal model for epilepsy and seizures in the human fragile-X (FRAX) syndrome.
|
17007840 |
2007 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|