Epilepsy is a chronic disorder characterized by unpredictable seizures, with causes including genetics, head trauma, strokes, and infectious diseases. Genetic testing, such as chromosomal microarray analysis, can help identify copy number variants (CNVs) associated with epilepsy. A recent study found that 16% of adults with childhood-onset epilepsy and intellectual disability had pathogenic CNVs, with some overlapping genes linked to intellectual disability, autism, and epilepsy. Identifying specific CNVs in epilepsy patients may improve diagnosis and treatment, as well as genetic counseling for family planning. Further research is needed to understand how these genetic variations impact the brain.
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DNA Stutters Associated With Epilepsy
