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Epilepsy and genetic in Rett syndrome: A review.

08:00 EDT 30th March 2019 | BioPortfolio

Summary of "Epilepsy and genetic in Rett syndrome: A review."

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000-20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6-12 months) followed by a rapid decline with regression of acquired motor skills, loss of spoken language and purposeful hand use, onset of hand stereotypes, abnormal gait, and growth failure. The course of the disease, in its classical form, is characterized by four stages. Three different atypical variants of the disease have been defined. Epilepsy has been reported in 60%-80% of patients with RTT; it differs among the various phenotypes and genotypes and its severity is an important contributor to the clinical severity of the disease.

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Name: Brain and behavior
ISSN: 2162-3279
Pages: e01250

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