A hitherto unknown genetic variant of progressive myoclonic epilepsy described -

A hitherto unknown genetic variant of progressive myoclonic epilepsy has been described

The Bellvitge Hospital and the Bellvitge Biomedical Research Institute (IDIBELL, at the Hospitalet de Llobregat, Barcelona) have contributed to expanding knowledge about progressive myoclonic epilepsy, a rare, serious and disabling neurological disease, through an international study published in the journal 'Frontiers in Genetics'1.The work describes a new genetic variant that has so far not been identified and gives an example of how advanced genetic diagnosis can be fundamental to improve the clinical approach and open new lines of research in this type of pathology.

Progressive myoclonic epilepsy is a rare disease, often with complex complications and late diagnosis, with limited therapeutic options.In this context, the correct treatment is important to understand the origin of the disease and guide the treatment of affected people.

Genetic analysis using targeted exomes

The study is based on the case of a person treated at the Bellvitge Hospital with progressive myoclonic epilepsy associated with the NUS1 gene, which is involved in important cellular processes related to the work of lysosomes.Through an exome-based genetic study targeting the patient's clinical characteristics, the group identified a previously unexplained variation of this gene, thus contributing to the expansion of international knowledge of this small science.

These kinds of information is very important in small spots, which one's new case will help in construction of a reason for the necessary cause of the future diagnoses.Again, the company is reviewed all the cases printed in the dialog and the proposal of the gengies to keep the genericity, but we will be better.A Dr. Cristina Shuoki, a genetic demand in the Berlvit Center and the first writer of additional research.

This case highlights the importance of a comprehensive, multidisciplinary approach, which is one of the unique features of Bellwit Hospital care.Specialists from the Clinical Genetics Department and the Neurology and Psychiatry Service, as well as scientists from the IDIBELL Neurological Disorders and Neurogenetics Group, were involved in the diagnostic and treatment process, all facilitating the integration of clinical, genetic and functional assessment of the individual.Achieving a genetic diagnosis not only allows for a better understanding of pathology, but can also guide clinical follow-up, optimize treatment decisions, and avoid unnecessary testing, providing clarity to both affected individuals and their families.

Observational studies with metformin

The study exploratively describes metformin – widely used in the treatment of diabetes – as a possible modulator of some symptoms associated with the disease.In this particular case, the treatment was associated with an improvement in severe psychiatric symptoms, although it did not change the evolution of epileptic seizures.

Neurologist at the Belwitz Epilepsy Unit Dr. Guillermo Hernández explains, "This is not an established or generalizable treatment; however, this observation provides new research on the role of cell metabolism and lysosomal function, which opens up opportunities for future studies."

Concerns about the tactor of tetracosaceatide

In relation to all this, the Spanish Society of Pediatric Neurology (SENEP) in a statement expresses its deep concern about the current shortage of tetracosactide, the active ingredient present in the Nuvacten Depot injection drug used as a first-line treatment for infantile epileptic spasm syndrome (IESS).Celebrate International Epilepsy Day this Monday.

Coordinators of the SENEP Epilepsy Working Group, Gemma Aznar and Elena Miravet, note that IESS is a serious epileptic encephalopathy that can lead to psychiatric disorders and drug-resistant epilepsy, but that diagnosis can be improved with early and effective treatment.Neuropediatricians say evidence-based intramuscular tetracosactide is one of the first treatments for infants with IESS Current clinical evidence shows that early intervention with these drugs is associated with better outcomes in seizure control and often has a positive effect on neurological development.

In fact, the Spanish Agency for Medicines and Health Products (AEMPS) has already announced that there is no similar option in Spain so far, and its approach may depend on special imports of foreign drugs such as Synathe.

1. Sau C, López-Rodríguez S, Falip M, Esteve-Garcia A, Sala-Padró J, Aguilera C, et al. Expanding the spectrum of NUS1-related myoclonic epilepsy: a new variant and exploratory use of metformin.Front.265;16:26.10.3389/fgene.2025.1665623