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Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.
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Genetic analysis reveals range of Rett syndromeThe first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.