Bionomics epilepsy test to be commercialised after trial

Adelaide epilepsy specialist Bionomics (ASX:BNO) has validated its promising genetic test for severe myoclonic epilepsy of infancy (SMEI) by successfully screening a large cohort of children diagnosed with severe epilepsy.

In the procedure, Prof Sam Berkovic, director of the Austin and Repatriation Hospital's epilepsy research unit, together with his long-time clinical co-worker, Assoc Prof Ingrid Scheffer, screened 100 children who had been diagnosed on clinical symptoms.

In about 25 per cent of cases, the clinical diagnosis had proved inconclusive. The Bionomics test, which checks for a mutation in the sodium-ion channel gene SCN1A, successfully excluded children with severe, non-SMEI epilepsies.

Bionomics has forwarded the results to US-based gene diagnostics specialist Nanogen, achieving a milestone in the companies' collaboration. The SMEI test will be Bionomic's first commercial product, and Nanogen will be the first company to commercialise it.

SMEI is one of the most severe forms of childhood epilepsy. Its symptoms appear in a small number of infants in the first two years of life, but are indistinguishable from benign seizures induced by fever.

The mortalty rate from SMEI is as high as 18 per cent, and most affected children suffer from developmental delays and other forms of seizures.

Bionomics CEO Dr Deborah Rathjen said SMEI patients rarely reproduced -- almost all cases are due to sporadic mutations around conception. In the absence of any family history of the disorder, a test to distinguish SMEI from other severe childhood epilepsies is vital to help clinicians design appropriate treatment strategies for children with SMEI -- or for non-SMEI epilepsy.

Berkovic, who is also a Bionomics board member, said the success of the screening established a quantitative link between SMEI and mutations in the SCN1A gene, providing an important step in improved diagnosis of this particular form of epilepsy.

Rathjen said the test would help neurologists to confirm or exclude an initial diagnosis of SMEI based on clinical symptoms.