title: [Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex].
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients' quality of life and cognitive level. AIM. To describe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy.
  
  
  METHODS
  A retrospective review was carried out of the medical records of 30 patients aged under 18 registered in our database, who had been diagnosed with TSC and epilepsy.
  
  
  RESULTS
  The age at onset of epilepsy in the patients with TSC in our series ranged from one month to four years. All of them began with partial crises. Two presented West's syndrome and four others had infantile spasms without hypsarrhythmia. In 19 of the patients, the epilepsy was medication resistant. As regards treatment with antiepileptic drugs, 11 are in monotherapy, 10 in bitherapy, seven in tritherapy and one with four drugs. Two were given ACTH, two carry an implanted vagal nerve stimulator, four receive treatment with everolimus and eight have undergone surgery.
  
  
  CONCLUSIONS
  Epilepsy is a very common problem and begins in the early years of life in TSC. There are currently a large number of therapeutic options available, although 63.3% of patients have non-controlled epilepsy and most of them present crises on a daily basis. Poor control of their crises is correlated with mental retardation and autism spectrum disorder. The positive response obtained with other therapeutic possibilities, such as mTOR pathway inhibitors, surgery and vagal nerve stimulator, should be noted.
authors.affiliation: Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
authors.forename: Verónica
authors.initials: V
authors.lastname: Puertas-Martin
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Carreras-Saez
authors.forename: Ana
authors.initials: A
authors.lastname: Marana
authors.forename: M Luz
authors.initials: ML
authors.lastname: Ruiz-Falco Rojas
authors.forename: Verónica
authors.initials: V
authors.lastname: Cantarin-Extremera
authors.forename: M Lourdes
authors.initials: ML
authors.lastname: Calleja-Gero
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D001254:Astrocytoma / Q000209:etiology / Q000503:physiopathology / Q000601:surgery; D001932:Brain Neoplasms / Q000209:etiology / Q000503:physiopathology / Q000601:surgery; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000209:etiology; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004351:Drug Resistance; D004359:Drug Therapy, Combination; D004828:Epilepsies, Partial / Q000209:etiology / Q000601:surgery / Q000628:therapy*; D000068338:Everolimus; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D012189:Retrospective Studies; D020123:Sirolimus / Q000031:analogs & derivatives / Q000627:therapeutic use; D013036:Spasms, Infantile / Q000209:etiology / Q000628:therapy; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors; D014402:Tuberous Sclerosis / Q000150:complications* / Q000601:surgery; D055536:Vagus Nerve Stimulation
chemical_list: D000927:Anticonvulsants; D000324:Adrenocorticotropic Hormone; D000068338:Everolimus; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus