Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy.
|
26758984 |
2016 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations.
|
29740858 |
2018 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, in utero CRISPR-Cas9-mediated genome editing of Tsc1 or Tsc2 induced the development of spontaneous behavioral seizures, as well as cytomegalic neurons and cortical dyslamination.
|
28215400 |
2017 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Here we report that tuberless heterozygote Tsc1(+/-) mice show functional upregulation of cortical GluN2C-containing N-methyl-D-aspartate receptors (NMDARs) in an mTOR-dependent manner and exhibit recurrent, unprovoked seizures during early postnatal life (<P19).
|
25081057 |
2014 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions (80% of patients) and seizures (75%).
|
28623545 |
2017 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam.
|
9924605 |
1998 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
As a group, patients with a TSC2 mutation had earlier age at seizure onset, lower cognition index, more tubers, and a greater TBP than those with a TSC1 mutation, but the ranges overlapped considerably.
|
18032745 |
2008 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures.
|
11579436 |
2001 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Here we demonstrate that autophagy is suppressed in brain tissues of forebrain-specific conditional TSC1 and phosphatase and tensin homlog knock-out mice, both of which display aberrant mTOR activation and seizures.
|
23136410 |
2012 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The mechanism underlying the association of autism and TSC is as yet unclear but clinical features and neuroimaging investigations suggest that an abnormal TSC gene may directly influence the development of autism rather than it being a secondary effect of seizures or MR.
|
9813776 |
1998 |
Seizures
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Microglia abnormalities may contribute to epileptogenesis in the context of neuronal involvement in TSC mouse models, but selective Tsc1 gene inactivation in microglia alone may not be sufficient to cause epilepsy, suggesting that microglia have more supportive roles in the pathogenesis of seizures in TSC.
|
30079598 |
2018 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Unlike pan-neuronal knockout mice, both interneuron-specific Tsc-1 knockout mice did not develop spontaneous seizures and grew into adults.
|
30683131 |
2019 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Further characterization of the roles of hamartin and tuberin will provide potential therapeutic avenues to treat seizures, mental retardation, and tumor growth in TSC.
|
10534239 |
1999 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Tsc1(+/-) mice pups exhibit an age-dependent seizure pattern sequence mimicking early human TSC epilepsy features.
|
26873267 |
2016 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
For the TSC group, though a small one, the variations in the MLT release amplitudes seem to be independent of the total number of seizures; however, the MLT release shift appears to depend on the number of seizures.
|
28529525 |
2017 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Furthermore, in utero CRISPR-Cas9-mediated genome editing of Tsc1 or Tsc2 induced the development of spontaneous behavioral seizures, as well as cytomegalic neurons and cortical dyslamination.
|
28215400 |
2017 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|