Case 3 Sequence 2: Laforin Isoform X4 (EPM2A)
Lafora progressive myoclonus epilepsy is a brain disorder which results in frequent seizures along with a degeneration of intellectual function (“What is Lafora,” 2009). This is the worst teenage-onset progressive epilepsy. Progressive epilepsy means a condition that affects the central nervous system and grows increasingly worse over time (“Progressive Myoclonus Epilepsy”). The gene EPM2A, which provides instructions for creating the protein laforin influenced the survival of nerve cells, or neurons, in the brain (“What genes are related,” 2009). Dysfunction in this protein can cause Lafora progressive myoclonus epilepsy when it mutates and a reduction in phosphatase activity takes place. Phosphates
Lafora progressive myoclonus epilepsy is a brain disorder which results in frequent seizures along with a degeneration of intellectual function (“What is Lafora,” 2009). This is the worst teenage-onset progressive epilepsy. Progressive epilepsy means a condition that affects the central nervous system and grows increasingly worse over time (“Progressive Myoclonus Epilepsy”). The gene EPM2A, which provides instructions for creating the protein laforin influenced the survival of nerve cells, or neurons, in the brain (“What genes are related,” 2009). Dysfunction in this protein can cause Lafora progressive myoclonus epilepsy when it mutates and a reduction in phosphatase activity takes place. Phosphates