New Discovering Epilepsy and Child autism

A new cause of autism and infantile epilepsy has been identified in a gene. The discovery, published in the American Journal of Human Genetics, was conducted by researchers at the pediatric Gianna Gaslini Hospital in Genova, led by Vincenzo Salpietro, a pediatric scholar at Gaslin University's Operational Confusion Unit of Peditical Neurology and Muscular Diseases. Genoa, in collaboration with the Neurogenetics and Biochemies of London University College (UCL) led by Henry Houden and James Rothman, received the 2013 Nobel Prize for Medicine.

Unnormal Communication

The study included families from Italy, Spain, France, and the United States. Researchers have studied a group of children with Infantial autism and drug - resistant epilepsis, speech disorders and motion disorders, identifying mutations in a gene called V AMP2 using genetic generation generation generation generation generation technology. The effects of these mutations have highlighted a possible change in the precise release of specific structures that transport neurotransmitters, “veculate”, resulting in abnormal communication among neurons at the synapses level.

Personal Care

This research says Carlo Minetti, the scientific director of the Gaslin Institute confirms the importance of the role of synapses in neuro-developive disorders, such as infantial autism and epilepsy. Today, finding the damaged gene that causes these diseases gives us great opportunity to be able to provide families with information on the evolution of disease and, in some cases, even ʹpressy therapies that take into account individual differences and can sometimes provide strategies for the prevention and personal care of each child “.

Do you know that?

James Rothman was honoured with the 2013 Nobel Prize for Medicine for his discoveries about the transmission of synapses, which represent the place where signals are passed between neurons and therefore allow proper brain function and the entire nervous system in humans.