|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
|
31077186 |
2019 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability.
|
31005478 |
2019 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Children and those with TSC2 had significantly higher rates of intellectual disability, suggesting that age and genotype comparisons should be interpreted with caution.
|
30201051 |
2018 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
TSC1 and TSC2 are the causative genes, and mental retardation, epileptic seizures, and facial angiofibroma develop in many patients with the disease.
|
29653868 |
2018 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype.
|
29636221 |
2018 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
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 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748).
|
29073472 |
2017 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the TSC1 or TSC2 genes, associated with many features, including intellectual disability (ID).
|
26408672 |
2015 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This review confirms that patients with TSC2 mutations considered as a group usually present a more severe phenotype, characterized by higher number of tubers, earlier age at seizure onset and higher prevalence of intellectual disability.
|
26706013 |
2015 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
As compared to patients with the TSC1 mutation, patients with the TSC2 mutation were younger (p = 0.02), more likely to have partial epilepsy (odds ratio (OR) 1.74, p = 0.0015), complex partial seizures (OR 2.03, p = 0.02), infantile spasms (IS) (OR 1.67, p = 0.01), subependymal giant-cell astrocytomas (SEGAs) (OR 1.64, p = 0.01), and intellectual disability (OR 2.90, p = 0.0002).
|
24917535 |
2014 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
|
23687350 |
2013 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy.
|
19694899 |
2009 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Intellectual disability was significantly more frequent in TSC2 sporadic cases than in TSC1 sporadic cases (P=.0145).
|
10205261 |
1999 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
In order to determine the contribution of tuberin to the development of mental retardation and seizures in patients with TS, we examined the expression of tuberin in adult and developing nervous system tissues.
|
9173918 |
1996 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|