Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In a well-characterized patient population with standardized assessment of multiple aspects of development, we found that having a TSC2 pathogenic variant was associated with significantly lower Mullen Scales of Early Learning scores at age 24 months, independent of seizures.
|
31005478 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
TSC2 mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load than TSC1.
|
29129521 |
2018 |
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 |
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 |
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 |
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 |
GeneticVariation
|
phenotype |
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 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure.
|
24737435 |
2014 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome.
|
23738537 |
2013 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Here we used the Tsc2 (+/-) (Eker) rat model of TSC and an experimental epilepsy paradigm to study the causal effect of seizures on learning and memory and social behavior phenotypes.
|
20927644 |
2011 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
However, Tsc2(GFAP1)CKO mice had an earlier onset and higher frequency of seizures, as well as significantly more severe histological abnormalities, compared with Tsc1(GFAP1)CKO mice.
|
21062901 |
2011 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with a truncating TSC1 or TSC2 mutation differed from those with nontruncating mutations in seizure types only.
|
18032745 |
2008 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Cognitive outcome was strongly associated with refractory seizures and TSC2 mutation.
|
17200495 |
2007 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures.
|
12913212 |
2003 |
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 |
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 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|