We'd like your feedback
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Sylvini Lalnunhlimi
+44 (0) 20 7848 5162
sylvine.1.lalnunhlimi@kcl.ac.uk
Laura Mantoan Ritter, MD PhD
00442032999000
laura.mantoan@kcl.ac.uk
Epilepsy Malformations of Cortical Development Focal Cortical Dysplasia
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes. Patients with FCD develop drug-resistant seizures. This study will look at FCD tissue removed during epilepsy surgery and aims to detect mutations in mTOR pathway genes in brain cells. Secondly, the investigators will establish if evidence of mutations found in brain cells can also be detected as circulating free DNA (cfDNA) in blood. By looking at which genes are made into proteins in individual cells found in epilepsy surgical tissue (single cell expression profiling),the investigators will attempt to identify new genetic targets in FCD.
The main outcome will be finding new causes of epilepsy with FCD and the development of new diagnostic and screening tools.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
You can take part if:
You may not be able to take part if:
This is in the inclusion criteria above
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Sylvini Lalnunhlimi
+44 (0) 20 7848 5162
sylvine.1.lalnunhlimi@kcl.ac.uk
Laura Mantoan Ritter, MD PhD
00442032999000
laura.mantoan@kcl.ac.uk
The study is sponsored by King's College Hospital NHS Trust and is in collaboration with King's College London; Danish Epilepsy Centre.
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
