Rubera International Hospital’s Epilepsy Program is involved in identifying a new type of epilepsy: MOGHE | Leader in Social Information

A new disease that has allowed the best treatment options to be identified, refined and research advanced to improve the condition of patients suffering from this disease. The center stressed that this discovery of a subtle cortical malformation, the result of exhaustive and interdisciplinary work in collaboration with other hospital services and in parallel with other European groups, marks an important milestone in the understanding and treatment of this disease. exhausting.

Dr Antonio Gil-Nagel Rein, head of the Associated Neurology Service and director of the Epilepsy Unit at Ruber International Hospital, said it is difficult to identify with conventional diagnostic tests. He said, “In 2010, we began seeing a series of patients with specific characteristics that were different from those already described for other epilepsy syndromes. Until then, these were healthy children who, between the ages of six months and three years, began to have frequent epileptic seizures that became increasingly intense over the months, interfered with their neurodevelopment, and were resistant to conventional epilepsy medications. In the most severely affected, the crises resulted in frequent falls, injuries, loss of previously acquired neurological abilities, and general deterioration. It was tragic for parents to see their children in this situation and helplessly watch the lack of a cure for their disease.”

Since the anticonvulsants did not work, the neurologist continued to monitor the epilepsy and regression of neurodevelopment, he was shown a series of additional tests, which together we call a preoperative study, in order to assess whether the patient was a good candidate for epilepsy surgery in order to achieve noticeably improve his seizures or even cure them.

The specialist emphasizes that in almost all of these patients, MRI of the brain showed normal, and electroencephalograms showed generalized changes, which did not allow us to suspect the presence of a diseased area of ​​the brain and that the rest of the brain was healthy.

“It seemed that the whole brain was diseased, but when we studied these children from our clinical point of view, we discovered that what was considered generalized was not so. In fact, his epilepsy originated in a single focus, which could be more or less extensive and which, spreading to the healthy brain, prevented it from developing normally or even caused the loss of functions already acquired,” admits Dr. Gil-Nagel. . Rein.

This epilepsy expert and international leader in the treatment, promotion and research of epilepsy emphasizes that once they had this suspicion and turned their attention to the area located on the EEG and the symptoms observed during seizures, they were able to assess the subtle changes on MRI of the brain. and PET scan. “These changes could be attributed to what we already knew were cortical malformations, but they were much less obvious,” he adds.

In many of these patients, epilepsy surgery has been excluded as a treatment option at other centers. “But by observing the location with our method and our hypotheses, we were able to offer them a targeted operation. All of them had improved seizure control and cognitive abilities: attention, learning, behavior, language and motor skills improved. In addition, it was possible to reduce the use of anticonvulsants, which led to a greater improvement in cognitive functions,” states the doctor.

Months or years later, some experienced seizures again, but not as severe as before surgery. They improved again after the second or even third intervention. The surgical specimens were sent for microscopic analysis to the European Epilepsy Brain Bank at the University of Erlangen, Germany, under the direction of Dr. Ingmar Blümke, whose group led the classification of cortical malformations and obtained surgical specimens from dozens. European centers.

As Dr. Antonio Gil-Nagel Rein explains, the analysis of the patients we described showed that this is a different type of neuronal migration disorder from those previously described. They were similar to the focal cortical dysplasia type 1 already known at that time, but in addition, oligodendrocytes, a type of glial, non-neuronal cell, were observed in the cortex, which should never have been in that place or in such numbers and which were not have been found in other cortical dysplasias.

“We noted in the epilepsy surgery groups involved in these studies that this was something that had never been seen before and did not fit into the classification at the time, so it could be a new disease,” Gil-Nagel says.

With all this information, the first scientific publication was made in January 2017 in the journal Brain Pathology, and then another in the prestigious New England Journal of Medicine, in which Drs. Antonio Gil-Nagel and Rafael Toledano, responsible for the preoperative examination at the Rubera International Hospital.

This new disease is called MOGHE (short for Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia). “MOGE has become part of the list of rare diseases. In addition, during our collaboration in 2017, many articles were published and we learned lessons that we can now apply to our patients,” says the director of the epilepsy department at Ruber Internacional Hospital.

In 2024, the hospital center has successfully treated more than 15 patients with MOGHE, and the doctor emphasizes the importance of early diagnosis and treatment to reduce neuronal damage due to epileptic seizures, improve cognitive development and improve quality of life.

As Antonio Gil-Nagel Rein notes, surgical decisions and planning are made by a multidisciplinary team experienced in the treatment of cortical dysplasias. This team includes neurologists specializing in epilepsy, doctors specializing in genetics, neurophysiology, radiology, nuclear medicine, as well as experienced neurosurgeons such as Dr. Marcelo Budke from our department.

In this sense, the expert points out that it is usually necessary to perform extensive resections, for which the individual anatomy of each patient must be well known, since functions such as vision, speech, motor skills, etc. may be displaced due to the phenomenon of brain plasticity. “When surgery is effective, we usually see improved cognitive function and early control of the crisis,” the doctor says.

The specialist clarifies that in cases where it is impossible to remove the entire lesion, bioinformational methods for reconstructing the electrical source are used, implemented at the Rubera International Epilepsy Department by Dr. Rafael Toledano based on electroencephalograms with enlarged montages (74 electrodes instead of 30). allow precise resection of the most epileptogenic area within the lesion itself.

Finally, Antonio Gil-Nagel emphasizes that adequate pharmacological treatment is also important and should accompany patients before surgery. Not all antiepileptic drugs are equally effective. Even if the seizures are not controlled, some medications work better than others. “In addition, clinical trials are already underway for more specific treatments for this disease,” he concludes.