What is the prevalence of seizures in Rett syndrome?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Rett syndrome in its classical form is caused by mutations in the MECP2 gene, although other similar forms caused by different genes are described. Additionally, although Rett syndrome has generally been described only in female patients (with the supposition that this would be a lethal disease in males), rare cases have been described in males.

Patients with Rett syndrome have a normal prenatal and birth history and normal psychomotor development for the first 6 months, followed by deceleration of head growth in most patients, loss of hand skills over the first 2-3 years of life, hand stereotypies, social withdrawal, communication dysfunction, loss of acquired speech, cognitive impairment, and impairment of movement. [15]

Seizures are reported in greater than 90% of females with Rett syndrome. Seizures may be of any type, but generalized tonic-clonic and complex partial seizures are the most common. [16]

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