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Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex

V. Puertas-Martín, I. Carreras-Sáez, A. Maraña, M.L. Ruiz-Falcó-Rojas, V. Cantarín-Extremera, M.L. Calleja-Gero [REV NEUROL 2014;58:529-535] PMID: 24915028 DOI: https://doi.org/10.33588/rn.5812.2013534

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Volumen 58 | Number 12 | Nº of views of the article 6.602 | Nº of PDF downloads 789 | Article publication date 16/06/2014

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ABSTRACT

INTRODUCTION Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients’ quality of life and cognitive level.

AIM To dscribe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy.

PATIENTS AND 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. KeywordsEpilepsy surgery Giant cell astrocytoma mTOR inhibitors Refractory epilepsy Tuberous sclerosis complex Vagus nerve stimulator CategoriesEpilepsias y síndromes epilépticos

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Therapeutic possibilities in refractory epilepsy in tuberous sclerosis complex