Hyperactive behavior
|
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 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The knockout mice lack normal Fmr1 protein and show macro-orchidism, learning deficits, and hyperactivity.
|
31468394 |
2019 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability.
|
29178241 |
2018 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
These results suggest abnormal neuronal activity in the Fmr1-KO mouse during SWRs, and hyperactivity during other wake and sleep states, with likely adverse consequences for memory processes.
|
29775702 |
2018 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
These results suggest that the change of shoaling behavior in fmr1 KO zebrafish may result from hyperactivity and an increase of anxiety.
|
28829283 |
2017 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A 237-kb deletion covering the entire FMR1 was identified to cause moderate intellectual disability and marked hyperactivity in an 8-year-old boy.
|
24963073 |
2015 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.
|
22549406 |
2012 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Here, we reveal that THIP significantly attenuated hyperactivity in Fmr1 KO mice, and reduced prepulse inhibition in a volume-dependent manner.
|
22067669 |
2011 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features.
|
20864408 |
2010 |
Hyperactive behavior
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The authors have recently shown that Fmr1KO mice with a yeast artificial chromosome containing the human FMR1 gene have corrected or overcorrected abnormal behaviors including hyperactivity and altered social interactions.
|
19045956 |
2008 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
In an earlier study, Fmr1 knockout mice carrying a yeast-artificial chromosome (YAC) transgene that over-expresses normal human FMRP (KOYAC) showed a correction or overcorrection of some behavioral responses, such as hyperactivity and anxiety-related responses.
|
18513141 |
2008 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The knockout mice lack normal Fmr1 protein and show macroorchidism, learning deficits, and hyperactivity.
|
8033209 |
1994 |
Hyperactive behavior
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|