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The management of drug resistant seizures in tuberous sclerosis

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Author(s): Paolo CURATOLO | Roberta BOMBARDIERI | Mariangela PINCI | Romina MOAVERO

Journal: Journal of Pediatric Sciences
ISSN 1309-1247

Volume: 1;
Issue: Special Issue-1;
Date: 2009;
Original page

Keywords: tuberous sclerosis | drug resistant seizures | epilepsy

ABSTRACT
Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant genetic disorder resulting from mutations in one of two genes, TSC1 and TSC2. Pathologically TSC is characterized by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. The majority of patients with TSC have epilepsy, although the mechanisms underlying epileptogenesis remain unknown. Seizures onset is frequently during the first year of life, and in a sizable proportion of individuals tend to be refractory to antiepileptic drug treatment. This article reviews the progress in understanding drug resistant seizures in TSC, from molecular pathogenesis to the pathophysiological mechanisms of epileptogenesis, and the rationale for appropriate medical and surgical treatment.

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