GOSH BRC researchers have identified a genetic cause for a rare form of epilepsy

GOSH BRC-supported researchers Dr Philippa Mills and Professor Peter Clayton, have identified a fault in the gene proline synthetase co-transcribed homolog (bacterial) (PROSC) in children with a rare strain of vitamin-B6 dependent epilepsy who are un-responsive to standard anti-epilepsy drugs. 

This research carried out homozygosity mapping and exome sequencing of a family in which there were three children with vitamin-B6 dependent epilepsy. The results showed a variation in both copies of the patient’s PROSC gene, a gene whose function was previously unknown. Subsequent sequencing of 29 children with B6 responsive epilepsy, which wasn’t explained by any known causes, identified four children with biallelic PROSC mutations.

These findings are extremely important as they open up new therapeutic options for these patients. PROSC will now be added to the list of currently identified genes known to cause vitamin-B6 dependent epilepsy, providing a test which can now confirm a diagnosis of epilepsy that will be improved by treatment with vitamin B6.

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