Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges

  title={Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges},
  author={Romina Moavero and Caterina Cerminara and Paolo Curatolo},
  journal={Child's Nervous System},
BackgroundIn 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. Dysregulated excitation probably has its roots in the disruption of GABAergic interneuron development. There is an age-dependent electroclinical expression of seizures, and epilepsy is often quite severe and unremitting.DiscussionThe majority… 

Epilepsy in Tuberous Sclerosis Complex.

The aim of this work was to point out the current knowledge on epileptogenesis in TSC, the available medical therapies and diagnostic tools, and possible surgical strategies, with the intent to better understand the actual difficulties in controlling seizures and the results reported in the literature.

Tuberous Sclerosis and Epilepsy

Multimodality neuroimaging has improved the detection of epileptogenic foci, allowing an increased number of TSC patients to be evaluated noninvasively for resective surgery.

Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough?

  • P. Curatolo
  • Medicine
    Developmental medicine and child neurology
  • 2010
It is suggested that mTOR inhibitors may have the potential to become a novel antiepileptogenic treatment for individuals with tuberous sclerosis and the termination of seizures may have developmental benefits.

A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature

How felbamate monotherapy was able to achieve such robust antiepileptic effects in a unique patient and possibly offer a novel therapeutic approach to patients suffering from TSC- and NF-related epilepsy is examined.

Emerging treatments in the management of tuberous sclerosis complex.

  • M. Kohrman
  • Medicine, Biology
    Pediatric neurology
  • 2012

Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype

Different treatment strategies have been proposed with the purpose to make patients epilepsy free, such as the use of different antiepileptic drugs like vigabatrin, carbamazepine, valproic acid, and levetiracetam, and a mTOR inhibitor has showed promising results in terms of seizures reduction.

Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures

Unlike many other therapies for treating TSC-associated seizures, everolimus addresses the underlying pathophysiology of TSC, and since it has also been shown to improve other TSC manifestations such as subependymal giant cell astrocytomas and renal angiomyolipomas,Everolimus provides a potential multisystemic therapy for TSC.



Current management for epilepsy in tuberous sclerosis complex

New evidence suggests that it is possible to noninvasively identify children with tuberous sclerosis who are highly likely to become seizure free following surgical treatment, and understanding the mechanisms of epileptogenesis might increase the availability of development of a more specific and efficacious treatment.

Epilepsy surgery and tuberous sclerosis complex: special considerations.

Intracranial electrode recordings performed in a large number of children with TSC undergoing epilepsy surgery have raised new questions about the relationship of the cortical tuber to the epileptogenic zone in TSC.

On the surgical treatment of refractory epilepsy in tuberous sclerosis complex.

Temporal lobectomy and focal cortical resection can result in improved seizure control in patients with TSC and RE, and should be considered as a standalone treatment for refractory epilepsy.

Surgical Treatment for Epilepsy in Cerebral Tuberous Sclerosis

It is suggested that epilepsy surgery may be beneficial in selected patients with TSC despite multifocal EEG and neuroimaging abnormalities, and postoperative EEG recordings showed absence of epileptiform abnormalities in the 5 patients who are seizure‐free.

Managing Epilepsy in Tuberous Sclerosis Complex

  • E. Thiele
  • Medicine, Psychology
    Journal of child neurology
  • 2004
Treatment of epilepsy in tuberous sclerosis complex is similar to epilepsy resulting from other causes and includes anticonvulsant medications, the vagus nerve stimulator, and the ketogenic diet and Vigabatrin has been shown to be particularly effective in treating infantile spasms in the setting of tuberousclerosis complex.

Surgical treatment of epilepsy in tuberous sclerosis

Surgical treatment of patients with TSC and intractable epilepsy is most effective when a single tuber or epileptogenic area can be identified as the source of seizures and resected.

Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex.

Patients with TSC and drug-resistant epilepsy may benefit from epilepsy surgery with reduction in frequency and severity of seizures as well as improved mental and behavioural development leading to a better quality of life.

Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex

Cyst-like cortical tubers are strongly associated with TSC2 gene mutation and a more aggressive seizure phenotype in patients with tuberous sclerosis complex.

Epilepsy Surgery in Young Children With Tuberous Sclerosis: Results of a Novel Approach

This approach can help to identify both primary and secondary epileptogenic zones in young TSC patients with multiple tubers, and four of the 5 children who initially were rejected as surgical candidates because of multifocality and who required initial bilateral electrode study are now seizure-free.