Epilepsy Information

How do genetic problems occur?


Genetic problems can be on the level of the chromosome or in the genes

Chromosomal abnormalities
• Problems may be seen when there is an abnormality with the number of chromosomes or the structure of a chromosome
  - For example, when there is an extra chromosome 21 (trisomy 21), this causes Down Syndrome, which can cause developmental delays and other medical conditions including epilepsy
  - When chromosome 20 has an abnormal ring shape this can cause severe epilepsy

Genetic abnormalities
• When the genes (in our analogy above- words) are “misspelled” with missing or wrong base-pairs, we call the mistake in spelling a “mutation”.  Mutated genes may cause the proteins of the cell not to work properly.  Mutated genes involved in “brain formation”, “brain metabolism”, and “brain communication” can cause epilepsy
• Genes could involve:
  - Brain malformations
  - Brain metabolism
  - Brain communication

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