TSC1 and TSC2: Tuberous Sclerosis Complex and Its Related Epilepsy Phenotype

Author:

Di Napoli Claudia1,Gennaro Alessia1,Lupica Carmelania1,Falsaperla Raffaele23,Leonardi Roberta4,Garozzo Maria Teresa5,Polizzi Agata6,Praticò Andrea D.4ORCID,Zanghì Antonio7,Ruggieri Martino6

Affiliation:

1. Postgraduate Training Program in Genetics, Department of Biomedical and Biotechnological Sciences, Section of Genetics, University of Catania, Catania, Italy

2. Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

3. Unit of Neonatal Intenstive Care and Neonatology, University Hospital “Policlinico Rodolico-San Marco,” Catania, Italy

4. Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, University of Catania, Catania, Italy

5. Unit of Pediatrics and Pediatric Emergency, Hospital “Cannizzaro,” Catania, Italy

6. Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy

7. Department of General Surgery and Medical-Surgical Specialty, University of Catania, Catania, Italy

Abstract

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a multisystemic involvement. In TSC, reduced function of TSC1 and TSC2 genes products (hamartin and tuberin, respectively) leads to an hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and to a consequent cell growth dysregulation. In TSC patients, neurological and neuropsychiatric manifestations, especially epilepsy and neuropsychiatric comorbidities such as autism or intellectual disability, represent the most disabling features. In particular, epilepsy occurrs up to 80% of patients, is often drug resistant and is frequently associated with neurological impairment. Due to the burden of this morbidity, different treatment strategies have been proposed with the purpose to make patients epilepsy free, such as the use of different antiepileptic drugs like vigabatrin, carbamazepine, valproic acid, and levetiracetam. More recently, a mTOR inhibitor (i.e. everolimus) has showed promising results in terms of seizures reduction.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference185 articles.

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