New genes behind epilepsy in children discovered
Melbourne: Researchers in Australia claimed to have discovered two new genes that cause severe epilepsy among children, a finding that is expected to help in improved diagnosis and treatment of the condition.
Epileptic encephalopathies refers to severe seizure disorder that occurs in infants and children. It is accompanied by slow development and intellectual problems.
Explaining the significance of the finding, Ingrid Scheffer, Paediatric neurologist and researcher at University of Melbourne and Florey Institute of Neuroscience and Mental Health, said: "These children have devastating disorders. Finding the cause is the first step in developing targeted treatments."
The finding is expected to lead to new tests for diagnosing the condition as well as improving the final outcome.
"Overall, our findings have important implications for making a diagnosis in patients, optimising therapy and genetic counselling for families," said Scheffer, who is the clinical leader of the study.
During the study, researchers analysed the genes of 500 children who have epileptic encephalopathies. Using recent advances in genetic testing, a next generation sequencing of a gene panel was performed.
65 genes were then analysed out of which 19 had previously been associated with epileptic encephalopathies while the remaining were believed to potentially cause the condition.
Results revealed mutations in 15 of the 65 genes, including two new genes, CHD2 and SYNGAP1, which have not previously been found to cause the seizures.
"This is a very exciting breakthrough which could lead to dramatic benefits in the lives of the children who suffer this condition," Scheffer said.
These genes will now become a diagnostic test for children with the condition and enable genetic counselling in their families.
Collaborators on the study included geneticists from the University of Washington, US and paediatric neurologists from around Australia, New Zealand, Denmark and Israel. The study has been published in Nature Genetics.