Researchers from Swansea University Medical School have teamed up with five other centers from around the world to collect the largest recorded collection of families with forms of epilepsy where genetics may be a factor in the condition
The goal was to decide if specific clinical epilepsy features aggregate within families and whether this may constitute distinct family syndromes that could inform on subsequent genetic research.
According to News-Medical.Net:
"The study involved epilepsy researchers from six Centers (Melbourne, Swansea, Montreal, Columbia University, Dublin, and Otago) assembling a cohort of 'genetically enriched' common epilepsies by collecting families containing multiple individuals with unprovoked seizures. 303 families with three or more individuals with unprovoked seizures were included in this study and collected across the six Centers and as part of the Epi4K consortium. Twenty-eight families collected from across Wales by the Neurology Research team met the study criteria.
"Clinical analysis of the 303 families revealed that families had a range of epilepsies that were the same by diagnosis but also had mixed forms of epilepsy. In addition, some familial epilepsies, that were regarded as rare, are more common than had been appreciated. Also by having well-characterized families this will help in the search for epilepsy genes – a search which is underway at the Columbia University Institute of Genomic Medicine."
Speaking about the research Professor Mark Rees, Swansea University said:
"This is the first time that an analysis of this scale has focused on common familial epilepsies. My Swansea University colleagues Dr. Owen Pickrell and alumnus Dr. Rhys Thomas (now University of Newcastle) worked hard over 10 years to collect 112 epilepsy families in Wales of which 28 qualified for this study. Some of these families had over eight or nine affected individuals which adds to the likelihood of finding new epilepsy genes"