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Mosaicism occurs when a mutation occurs in a single cell during the initial stages of embryonic development. As the embryo grows and the cells dividing the daughter cells of which it is a carrier of the mutation can also affect the mutation, while the rest of the cells will not present this change in their DNA
HOW TO ACT BEFORE A CRISIS?
1. Keep calm, don't be scared and
calm others.
2. Prevent the patient from hitting with
objects located nearby.
3. Place the patient in position
safety side when finished
the crisis.
4. Overcome the crisis, let him rest.
De novo mutations have a low probability of recurrence.
Giving useful information so that parents with affected children can receive genetic couseling about the possibility of their future children being affected
There is an increased risk of recurrence because a significant proportion of the parents are actually genetic mosaics.
Most recurrences of developmental epileptic encephalopathy are mainly caused by the small group of people who show mosaicism for mutations.
Geneticists indicate that the risk of recurrence of these disorders in families with one affected child is approximately 1% this accounts for the fact that one parent may have gonadal mosaicism. In families with an affected child, the actual risk of recurrence may be as high as 50%.
To confirm the diagnosis and give the treatment, the pediatrician specialized in Neuropediatrics is recommended; since it will be necessary to carry out complementary tests, which are usually performed in the hospital, to detect the first side effects, worsen the number and frequency of the seizures and evaluate, the patient's quality of life and their needs.