Abstract
Epilepsy is one of the most common neurological disorders, characterized by spontaneous recurrent seizures. KCNQ2 encephalopathy (KCNQ2-E) is a severe subtype of epilepsy, characterized by seizures that appear in the first weeks of life, and a severe developmental delay for which no cure is available. The disorder is caused by a mutation in the KCNQ2 gene, encoding a potassium channel in the brain that is very important for the communication and development of neurons. In this project we will study the cause of the developmental problems of KCNQ2-E, since this is so far not understood, and seems to be at least partially independent from seizure activity. As a model we will use brain organoids, which are 3D structures derived from patient's pluripotent stem cells that represent the fetal brain in vitro. Brain organoids are a good model voor our project, because of the more complex cell interactions compared to 2D cultures. They can also generate human brain structures that are absent in animal models. The forebrain organoids will be characterizedmorphologically and electrophysiologically and compared to control organoids, with the eventual aim to understand the mechanisms underlying the developmental delay and to develop a potent read-out system for future therapeutic studies.
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