|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies.
|
30911571 |
2019 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
LAM study: Effects of lacosamide on behaviour and quality of life in patients with epilepsy.
|
27993420 |
2019 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mice developed epilepsy in a narrow time window (10 ± 2 days) upon Tsc1 gene deletion.
|
31353861 |
2019 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by deletions in the TSC1 or TSC2 genes that is associated with epilepsy in up to 90% of patients.
|
31761686 |
2019 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The polymorphism of locus 142 in TSC1 gene is correlated with epilepsy, that is, the increase of CA and AA content in locus 142 leads to the occurrence of epilepsy.
|
29285181 |
2017 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings support a model in which the developmental timing of TSC1 loss dictates the severity of neuronal and glial abnormalities and resulting epilepsy.
|
29023667 |
2017 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included 5 novel mutations; all patients had skin manifestations and epilepsy.
|
27859028 |
2017 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We identified 551 unique patients with TSC, of which 386 (70.1%) had epilepsy.The mean study period was 8.82 years.
|
29078087 |
2017 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The profiles for the epileptic and TSC groups were found to be similar.
|
28529525 |
2017 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Among the combinatorial targets were TSC1, coding for the protein hamartin, and several epilepsy risk genes.
|
25452577 |
2016 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
|
26873267 |
2016 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Compared to patients with TSC1 mutations, individuals with TSC2 mutations had a significantly higher frequency of epilepsy (p<0.05) and tended to have a higher frequency of infantile spasms (37% vs 17%; p<0.3).
|
25498131 |
2014 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex.
|
25030328 |
2014 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Similar to Tsc1(GFAP1)CKO mice, Tsc2(GFAP1)CKO mice exhibited epilepsy, premature death, progressive megencephaly, diffuse glial proliferation, dispersion of hippocampal pyramidal cells and decreased astrocyte glutamate transporter expression.
|
21062901 |
2011 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we report that mosaic induction of Tsc1 loss in neural progenitor cells in Tsc1(cc) Nestin-rtTA(+) TetOp-cre(+) embryos by doxycycline leads to multiple neurological symptoms, including severe epilepsy and premature death.
|
22025691 |
2011 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation.
|
20358377 |
2010 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous studies revealed different alterations of TSC1 and TSC2 in epilepsy-associated malformations and glio-neuronal tumors despite histopathologic similarities.
|
16042315 |
2005 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
|
12112044 |
2002 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2.75% of cases are sporadic.Most patients with TS have epilepsy.
|
12185771 |
2002 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The study of the molecular pathogenesis of epilepsy in tuberous sclerosis has taken on a new dimension with the identification of the TSC1 and TSC2 genes.
|
12040899 |
2002 |
|
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2.75% of cases are sporadic.Most patients with TS have epilepsy.
|
11749114 |
2001 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Studies of how TSC1 and TSC2 function in normal and dysplastic cerebral neocortex may provide a paradigm for understanding the neurobiology of other genes that determine epilepsy-associated cerebral malformations (e.g. lissencephaly, double cortex).
|
9761305 |
1998 |