A form of childhood epilepsy probably arose 800 years ago in a single patient

Embargoed until: Publicly released: 2022-10-26 02:00

Australia; International; NSW; VIC

CC-0

A rare form of childhood epilepsy called 'genetic epilepsy with febrile seizures plus (GEFS+)' may have originated in a single person when a gene called SCN1B c.363C>G mutated around 800 years ago, according to Australian and UK researchers. They analysed the DNA of 14 affected families in the UK, and determined that all 14 carried the genetic mutation, which they say probably occurred around 800 years ago when these families last shared a common ancestor. Searching the wider UK population's DNA, they identified 74 people with the same genetic mutation. The mutation has likely survived despite causing disease because most carriers are only slightly affected, the researchers say.

Media release

From:

Attachments

Note: Not all attachments are visible to the general public. Research URLs will go live after the embargo ends.

Research Cell Press, Web page The URL will go live after the embargo ends

Journal/
conference: American Journal of Human Genetics

Research:Paper

Organisation/s: The University of Melbourne, WEHI, Murdoch Children's Research Institute (MCRI), Florey Institute of Neuroscience and Mental Health, Monash University, University of Sydney

Funder: Funding support was provided by the Epilepsy Society Tasmania and the Estate of Kathleen Beulah Grace; National Health and Medical Research Council (NHMRC) program grant 1091593 (S.F.B., I.E.S.); NHMRC investigator grants 1195236 (M.B.), 1196637 (S.F.B.), and 1172897 (I.E.S.); Australian Government Research Training Program Scholarship APP533086 provided by the Australian Centre for Geomechanics and the University of Melbourne (K.L.O.); DHB Foundation Centenary Postdoctoral Fellowship in Neurogenetic Systems Biology (L.G.F.); Taking Flight Award from CURE Epilepsy (M.F.B.); Epilepsy Society, UK (S.M.S.). Funding for the UK-Wales samples was provided by the Health and Care Research Wales funding for the Wales Epilepsy Research Network (WOP/MIR). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme and partly supported by the Brain Repair and Intracranial Neurotherapeutics Unit. Part of this work was undertaken at University College London Hospitals NHS Foundation Trust, which received a Q17 proportion of funding from the UK NIHR Biomedical Research Centre’s funding scheme.

Media Contact/s

Contact details are only visible to registered journalists.