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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tuberous sclerosis
Comorbidity C0014544|epilepsy
Sentences 35
PubMedID- 23219029 Clobazam therapy of refractory epilepsy in tuberous sclerosis complex.
PubMedID- 23250840 epilepsy in tuberous sclerosis complex.
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- 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- 26046563 Objective: to describe treatment and outcome of epilepsy in children with tuberous sclerosis complex (tsc).
PubMedID- 19369101 epilepsy associated with tuberous sclerosis complex (tsc) is characterized by early onset and intractable seizures in the majority of children.
PubMedID- 24379984 In addition to tumor development, epilepsy is commonly associated with tuberous sclerosis complex (see below) and about 50% of patients have some form of a learning disorder, including autistic behaviors (also see below) [218–220].
PubMedID- 20636971 Can we change the course of epilepsy in tuberous sclerosis complex.
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- 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- 25847341 Its role in the treatment of epilepsy in individuals with tuberous sclerosis complex (tsc) has yet to be determined.
PubMedID- 20041940 The natural history of epilepsy in tuberous sclerosis complex.
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- 24044547 epilepsy associated with tuberous sclerosis generally begins during the first year of life and, in most patients, in the first few months.
PubMedID- 22019663 Multimodal approach in the surgical treatment of refractory epilepsy associated with tuberous sclerosis complex: a series of three cases.
PubMedID- 23400643 In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.
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- 20682200 Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.
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- 21507691 Background: epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age.
PubMedID- 22695035 Management of epilepsy associated with tuberous sclerosis complex (tsc): clinical recommendations.
PubMedID- 26060906 epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments.
PubMedID- 26067126 Treatment of epilepsy associated with tuberous sclerosis remains a major challenge, with more than 60% of patients having ongoing seizures.
PubMedID- 25360852 Object: tuberous sclerosis complex (tsc) with medically refractory epilepsy is characterized by multifocal brain abnormalities, traditionally indicating poor surgical candidacy.
PubMedID- 22937790 The patient was known to have tuberous sclerosis which presented with epilepsy and adenoma sebaceum when she was 19 years old.
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- 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- 23798472 Everolimus treatment of refractory epilepsy in tuberous sclerosis complex.
PubMedID- 22247914 Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome.
PubMedID- 24698169 Background/purpose: to clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (tsc) in taiwan.
PubMedID- 21481739 Cortical tubers, cognition, and epilepsy in tuberous sclerosis.
PubMedID- 22000822 Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.
PubMedID- 22142783 Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis.
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.

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