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"Anche io posso scegliere". Educare all'autodeterminazione per il pieno sviluppo della persona con disabilità

The needs of autonomy, self-sufficiency and self-determination for a person in a vulnerable condition should be a priority and be placed at the center of any educational activity, which has as its horizon the realization of the full inclusive process. It is possible to move towards this goal by considering the characteristics of the network, in which the person lives, recognizing the value of each individual knot and, at the same time, working in a synergic and complementary way, so that no...

Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy

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An unusual case of drug-resistant epilepsy in a child with non-celiac gluten sensitivity

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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi-system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications. To investigate clinical presentation, treatment outcomes, and genotype-phenotype associations in CFCS patients with IESS, molecular genetics and clinical neurological history were reviewed across two large clinical research cohorts (n = 180...

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