eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | tuberous sclerosis |
| Symptom | C0014544|epilepsy |
| Sentences | 39 |
| PubMedID- 25633849 | Nonetheless, these preclinical data have led to limited use in humans with epilepsy due to tuberous sclerosis complex and polyhydramnios, megalencephaly, and symptomatic epilepsy with promising results. |
| PubMedID- 23798472 | Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. |
| PubMedID- 24379984 | Clinical trials are ongoing to further examine the effects of everolimus on epilepsy associated with tuberous sclerosis complex. |
| PubMedID- 23219029 | Clobazam therapy of refractory epilepsy in tuberous sclerosis complex. |
| PubMedID- 26046563 | Objective: to describe treatment and outcome of epilepsy in children with tuberous sclerosis complex (tsc). |
| PubMedID- 25590037 | Mtor signaling has been implicated in the pathogenesis of tuberous sclerosis complex, a syndrome with a prominent epilepsy phenotype.28 the rapid effect of protein synthesis inhibitors (20–30 min) indicates involvement of local protein synthesis, possibly in dendrites and/or synapses,29 where it is thought to play a key role in regulating neuronal plasticity.29,30 further studies will be required to investigate whether srp9 affects seizure susceptibility via local synaptic protein synthesis. |
| PubMedID- 23743820 | Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86. |
| PubMedID- 21481739 | Cortical tubers, cognition, and epilepsy in tuberous sclerosis. |
| PubMedID- 21959128 | Purpose: to elucidate the functional characteristics of cortical tubers that might be responsible for epilepsy in tuberous sclerosis complex (tsc), proton magnetic resonance spectroscopy ((1)h-mrs) and 123i iomazenil (123i-imz) single photon emission computed tomography (spect) were performed. |
| PubMedID- 23250840 | epilepsy in tuberous sclerosis complex. |
| PubMedID- 22142783 | Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. |
| PubMedID- 23883617 | Abnormal inhibitory circuits in cortical tubers of tuberous sclerosis, associated with refractory epilepsy, are accompanied by aberrant expression of parvalbumin and calbindin d28k in the dysplastic cortex . |
| PubMedID- 22019663 | Multimodal approach in the surgical treatment of refractory epilepsy associated with tuberous sclerosis complex: a series of three cases. |
| PubMedID- 25591831 | Conclusion: various preclinical models provide substantial evidence for the role of mtor inhibition in the treatment of epilepsy in individuals with tuberous sclerosis complex. |
| PubMedID- 20636971 | Can we change the course of epilepsy in tuberous sclerosis complex. |
| PubMedID- 22695035 | Management of epilepsy associated with tuberous sclerosis complex (tsc): clinical recommendations. |
| PubMedID- 20041940 | The natural history of epilepsy in tuberous sclerosis complex. |
| PubMedID- 25360852 | Object: tuberous sclerosis complex (tsc) with medically refractory epilepsy is characterized by multifocal brain abnormalities, traditionally indicating poor surgical candidacy. |
| PubMedID- 22000822 | Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. |
| PubMedID- 24044547 | epilepsy associated with tuberous sclerosis generally begins during the first year of life and, in most patients, in the first few months. |
| PubMedID- 25847341 | Its role in the treatment of epilepsy in individuals with tuberous sclerosis complex (tsc) has yet to be determined. |
| PubMedID- 26067126 | Treatment of epilepsy associated with tuberous sclerosis remains a major challenge, with more than 60% of patients having ongoing seizures. |
| PubMedID- 24556736 | Target-oriented treatments such as rapamycin and everolimus are currently under clinical investigation to prevent epilepsy in patients with tuberous sclerosis. |
| PubMedID- 25030328 | epilepsy in newborns with tuberous sclerosis complex. |
| PubMedID- 21507691 | Background: epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age. |
| PubMedID- 22247914 | Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome. |
| PubMedID- 25783594 | Other includes lennox-gastaut syndrome, epilepsy due to tuberous sclerosis, epilepsy with electrical status epilepticus in sleep and epilepsies otherwise unclassified: none of these particular cases had unique chd2 variants. |
| PubMedID- 26060906 | epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. |
| PubMedID- 23400643 | In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. |
| PubMedID- 25340101 | Neurologic manifestation of tuberous sclerosis, including epilepsy and low intelligence quotient (iq), along with sebaceous adenoma in skin make the classic triad of the disease which is seen in less than 50% of the patients. |
| PubMedID- 23861807 | They also found associations between autistic traits and epilepsy in patients with tuberous sclerosis. |
| PubMedID- 22983234 | Treatment of epilepsy in tuberous sclerosis is similar to epilepsy resulting from other cases and includes anticonvulsant medications, the epilepsy surgery, the vagus nerve stimulation and the ketogenic diet. |
| PubMedID- 22937790 | The patient was known to have tuberous sclerosis which presented with epilepsy and adenoma sebaceum when she was 19 years old. |
| PubMedID- 20682200 | Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis. |
| PubMedID- 24304436 | Purpose: prevalence and long-term outcome of epilepsy in tuberous sclerosis complex (tsc) is reported to be variable, and the reasons for this variability are still controversial. |
| PubMedID- 24808722 | tuberous sclerosis complex frequently presents with intractable epilepsy, which may begin with infantile spasms and progress to intractable generalized or focal seizures. |
| PubMedID- 19369101 | epilepsy associated with tuberous sclerosis complex (tsc) is characterized by early onset and intractable seizures in the majority of children. |
| PubMedID- 23703058 | Conclusions: epilepsy in tuberous sclerosis is relatively benign and an acceptable degree of control is achieved in most cases with a number of the antiepileptic drugs recommended in the treatment guidelines. |
| PubMedID- 24698169 | Background/purpose: to clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (tsc) in taiwan. |
Page: 1