Current management for epilepsy in tuberous sclerosis complex

Abstract

Epilepsy in tuberous sclerosis seems to arise from the interaction between multiple areas, all of which have increased excitability and reduced inhibition. Understanding the mechanisms of epileptogenesis might increase the availability of development of a more specific and efficacious treatment. 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.

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

“…In addition, the brain penetration shown here in P10 mice suggests that rapamycin would also penetrate the CNS at high levels in infants. Therefore, these drugs may possibly have benefit in the treatment of TSCassociated infantile spasms, often a difficult clinical problem (Curatolo et al, 2006;Holmes and Stafstrom, 2007). Because similar although not identical histologic features, including evidence of mTORC1 activation and alteration of neurofilament expression, are seen in focal cortical dysplasias (FCD) (Taylor et al, 2001;Baybis et al, 2004;Miyata et al, 2004;Ljungberg et al, 2006), rapamycin may possibly be of benefit in the treatment of neurological manifestations associated with FCD as well.…”

Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review

“…As many as 20% of TSC patients develop partial seizures that are refractory to pharmaceutical agents 15 , and many require surgical intervention for intractable and poorly controlled epilepsy 89 . Current consensus holds that the benefit of seizure control must be weighed against the short-term risks of complications associated with invasive brain surgery and the long-term risks of uncontrolled progressive developmental delays 30,88,108 . The high risk-benefit ratio associated with surgery in neurological manifestations of TSC may explain the interest expressed in recent literature in pharmaceutical agents for these epilepsy and SEGAs.…”

Management of epilepsy in tuberous sclerosis complex

“…However, early surgery may be one way to control seizures and to prevent the development of epileptic encephalopathy [35].…”