Genetic risk of passing on severe epilepsy higher than first thought, researchers find

FAMILIES of children with severe epilepsy disorders now have the chance to avoid having another affected child, after Melbourne researchers found the genetic risk of passing on the condition is much higher than previously thought.

FAMILIES of children with severe epilepsy disorders now have the chance to avoid having another affected child, after Melbourne researchers found the genetic risk of passing on the condition is much higher than previously thought.

Epileptic encephalopathies are a severe cluster of disorders that appear as seizures in infancy or childhood, typically leading to uncontrolled epilepsy and intellectual disability.

A third of these children have autism spectrum disorder, the profoundly impaired cannot walk or talk, and many also have sleep and behavioural issues.

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These conditions were though to often arise from a new genetic mutation in the child and not carried by the parent.

Families are generally advised there is a 1 per cent chance of having a subsequent child born with the condition.

But a study of 123 affected families found that recurrence risk may be up to 50 per cent, after uncovering that 8 per cent of these families had one parent who carried low levels of the genetic abnormality despite not having the disease themselves.

Parents can pass on epilepsy in greater numbers than originally thought.

This “germ line mosaicism”, where the mutation is present in the egg or sperm cell and consequently in all cells of the child created from that embryo, was found in 10 of the 123 families studied.

The findings were published today in The New England Journal of Medicine.

Study co-lead Professor Ingrid Scheffer, director of paediatrics at Austin Health and chair of paediatric neurology at the University of Melbourne, said she hoped these findings would lead to this type of testing being offered as routine for epilepsy disorders, and potentially for other genetic diseases.

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“It’s so hard for the families to cope with a severely disabled children, so having a second affected child is devastating,” Prof Scheffer said.

“I think this will change practice to inform testing for the next pregnancy.

“There are many genetic diseases, really severe ones, that aren’t due to a new mutation in a child and may have a similar mosaicism rate.”

@BrigidOConnell