Scientists Have Pinpointed The Gene That Could Cause Epilepsy And Autism

Researchers in San Francisco claim to have found a potential genetic key to infantile epilepsy and autism. In new findings released this week, researchers from the University of California have stated that a distinct set of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders. The authors of the study say that their discovery is a first step towards understanding how subtle changes in brain function in utero may lead to the development of either a 'seizure-prone brain' or an 'autistic brain' in infancy. The study identified a specific gene, known as SCN2A, as the single human gene with the strongest evidence for a causal role in driving autism. The study's co-author Stephan Sanders, who is an assistant professor of psychiatry at UCSF and member of the UCSF Weill Institute for Neurosciences, says that tracing how these particular genetic defects lead to more general changes in brain function could unlock fundamental mysteries about how events early in brain development lead to autism:

"The genetics of neuropsychiatric disease is often complicated, but here we have a single gene in which specific mutations can cause either infantile seizures or autism in a consistent and predictable manner. This gives us an opportunity to understand both what these disorders have in common and what makes them different."

The link between autism and the SCN2A gene was first discovered by Professor Matthew State, chair of psychiatry at UCSF, who was not directly involved with this latest study:

"In autism research, understanding why mutations in a single gene can lead not only to ASDs, but to a wide range of other neurodevelopment disorders has emerged as a central question for the field. This new work provides critical clues that begin to unravel this mystery and could serve as a molecular 'rosetta stone' to illuminate autism pathology."

The advent of genome sequencing in recent years has allowed researchers to make significant progress in identifying genetic risk factors for autism, says Sanders:

"In the past four years we've gone from not really knowing how to find autism genes to having a long list of mutations linked to the disorder."

In studies published in 2012, 2014, and 2015, Professors State and Sanders and their colleagues found that 'de novo genetic mutations' - spontaneous mutations not inherited from parents - play a role in the development of ASDs in at least twenty percent of all cases of autism, many more than previously thought. The researchers say that the next key next step lie in understanding whether the severity of autism and developmental delay can be predicted by the specific SCN2A gene mutation a person has, research that will require close collaboration between scientists and families affected by the important new findings.  Join the conversation on Twitter @HerFamilydotie