Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.

Abstract excerpt

The elucidation of the molecular basis of monogenic epilepsies is advancing rapidly. For clinicians, knowing not only the affected gene, but also the patient's exact genetic variant and gaining insight into its effect on RNA, protein, cell, and organism level is becoming increasingly important. As different variants in the same gene can lead to opposing functional effects, an understanding of their nature is...

Topics

• Humans
• Epilepsy
• Child
• Genetic Variation