Breakthrough as Swansea University scientists help discover genes in cases of severe infant epilepsy

The Neurology and Molecular Neuroscience Research Team at Swansea University Medical School has been involved in collaborative breakthrough research that has discovered new genes in cases of severe infantile epilepsy.

The new genes identified are de novo genetic changes which means the mutations have occurred spontaneously and are not inherited from parents, an important factor for informed family planning.

Professor Mark Rees leader of the Neurology Research Team at Swansea University said: “Parents are very motivated to know how or why their young child has devastating recurrent seizures, often with developmental and cognitive consequences. Finding genes means you find causation of the disease which is very important to families. This research links previously unknown genes to infantile epileptic encephalopathy (IEE).  New genes means new diagnostic tests for children with the same IEE disorder in the best-practice transfer from the research domain into the diagnostic domain.

“Although we have yet to identify therapeutic outcomes as a result of these findings, knowing the causation and biology is the first step in the right direction for IEE’s.”  

The discovery is the result of an international gene-discovery consortium for epilepsy (Epi4K) involving Swansea University Medical School; the University of California, Los Angeles, (UCLA); the University of Melbourne; Columbia University in New York, and Seattle Children’s Hospital.  Professor Rees, Dr Seo-Kyung Chung, and Dr Owen Pickrell from the Neurology Research Team submitted the DNA from 27 large families with epilepsy to Epi4K representing over 450 epilepsy cases from various health boards in Wales.  

Professor Rees added: “This is the first of many scholarly outputs from the Epi4K collaborations, with top neurology departments across the globe taking part.  More importantly these large consortiums are finding new genetic causes for severe infantile epilepsy and providing information for families as they cope with challenging care and making informed treatment decisions. These consortia are going to be vital in the search for new genes in difficult and complex disorders and the development of interventional strategies.”

The findings have been published in the American Journal of Human Genetics.