Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges.
BACKGROUND
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. 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.


CONCLUSIONS
The majority of patients (>60%) who are candidates for surgery remain seizure-free after tuberectomy. During the recent years technical advances in the localization of the epileptogenic zone during the recent years have lead to a 63% of Engel class I status after surgery compared with a previous 52%. In medically refractory patients not suitable for surgery, vagus nerve stimulation has proved efficacy in significantly reducing seizure frequency in more than 50% of cases. New evidence suggests that mTOR inhibitors may be helpful in the management of intractable epilepsy for individuals with TSC.
Moavero
Romina
R
Department of Neuroscience, Pediatric Neurology Unit, "Tor Vergata" University of Rome, Via Montpellier 1, 00133, Rome, Italy.
Cerminara
Caterina
C
Curatolo
Paolo
P
D000818:Animals; D000927:Anticonvulsants / Q000627:therapeutic use; D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D004827:Epilepsy / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007223:Infant; D007395:Interneurons / Q000502:physiology; D009433:Neural Inhibition / Q000235:genetics / Q000502:physiology; D010641:Phenotype; D018079:Receptors, GABA / Q000235:genetics / Q000502:physiology; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D055536:Vagus Nerve Stimulation
D000927:Anticonvulsants; D002135:Calcium-Binding Proteins; D018079:Receptors, GABA; C486009:TESC protein, human