New therapeutic approach against rare epilepsy in newborns discovered!

New therapeutic approach against rare epilepsy in newborns discovered!

A prematurely born child from Munich suffers from a rare disease that is associated with almost continuous epileptic seizures. Traditional therapies have not brought the desired success, which is why an interdisciplinary team consisting of specialists from the TUM Clinic, the Ludwig Maximilian University Clinic and Dr. from Haunerschen Children's Hospital, has developed an innovative treatment approach. This novel therapeutic approach initially led to an interruption of the seizures and then to a significant reduction in the frequency of seizures. The case is currently being documented in the renowned specialist magazine “Nature Medicine”.

The disease is SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE), which is caused by genetic mutations in the SCN2A gene. This gene produces an essential protein that acts as a sodium channel and is essential for the proper functioning of nerve cells. Malfunctions in this gene lead to faulty proteins and thus to impaired signal transmission in the brain. The first epileptic seizures usually occur before the third month of life and are often accompanied by severe developmental disorders.

Genetic diagnostics and therapeutic advances

The affected child's genetic defect was diagnosed in the womb, which underlines the importance of genetic testing. These tests are becoming increasingly valuable, particularly in the context of new precision therapies based on specific diagnoses. Pediatric neurology plays a key role in the field of neurological diseases in children and adolescents, but currently only offers current therapies for a few diagnoses.

Expertise in epileptology is also discussed in Schmitt's book, which provides a comprehensive overview of clinically relevant concepts. It covers both diagnostic and therapeutic measures and contains numerous case reports that are important for practical application in a clinical context. The book takes national and international guidelines into account, making it a valuable resource for professionals.

Research initiatives and interdisciplinary collaboration

The research group led by the Kaindl working group is specifically dedicated to genetically determined diseases of the developing nervous system and epilepsy. Their goal is to clarify the molecular causes of such diseases and to research new therapeutic approaches. The interdisciplinary team, consisting of doctors, scientists, bioinformaticians and bioengineers, focuses on the development of epilepsy in children and the understanding of the diverse spectrum of the disease. At the same time, they are working to optimize existing therapies, including the development of precision therapies.

The challenges in epilepsy treatment are complex. In addition to medical care, there is also a need for support for affected children and their parents. Unanswered questions remain in the areas of science, technology, ethics and care, indicating the complexity of these diseases. Research and therapy development therefore remains a dynamic and necessary field.