Mutations in the GRIN2A gene could be involved in the occurrence of epileptic encephalopathies. Unlike “classic” seizures, this type of epilepsy can cause or exacerbate cognitive problems, language disorders or even intellectual disabilities. These epileptic encephalopathies appear early around the age of 4-5 years after a period of normal development.
The team of researcher Pierre Szepetowski from Inserm reports in a study published in Nature genetics that 20% of these rare forms of epilepsy are probably explained by mutations in the GRIN2A gene. “These three syndromes can be seen as different clinical expressions of one and the same pathology at the crossroads between epilepsy, language disorders and cognitive and behavioral disorders”, comments in a press release Pierre Szepetowski, principal author of the study. Identifying this gene is a first step in better understanding the causes and origin of this disease. “We can also hope to see setting up in the future, once the mechanisms are better understood, early therapeutic strategies, which will be crucial to improve a prognosis linked to the associated neuropsychological deficit”.
While it is still difficult to prevent epileptic seizures, an Australian researcher at the University of Melbourne recently devised a housing and implant capable of preventing dischargesabnormal nerve impulses in the brain. American researchers are working in parallel on a cell injection techniquethat could ease crises.
