AANS Neurosurgeon | Volume 29, Number 2, 2020


Study: Most Newborns with Epilepsy Benefit From Genetic Testing

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Data show that the majority of neonatal epilepsy is linked to identifiable genetic causes, which may help guide treatment and family genetic counseling.


Because of genetic testing, Orion Maynard’s parents knew the cause of his epilepsy weeks after he was born. The results influenced his treatment, qualified him for immediate intervention services and led to the discovery that future siblings had a 50-percent chance of being born with the same condition.

Most newborns with epilepsy like Orion would benefit from genetic testing because the majority of cases are linked to identifiable genetic causes, finds a new study led by University of Michigan C.S. Mott Children’s Hospital.

In the study, among 29 babies with epilepsy not linked to congenital brain malformations, 83 percent had a genetic cause. Research analyzed data from the Neonatal Seizure Registry that includes enrollees from seven children’s hospitals, including Mott.

A parallel, for which Mott was a major contributor, found similar results for children under age three.

“The younger the epilepsy begins, the more likely we are to find a genetic cause that may help with treatment,” says Renee Shellhaas, M.D., a pediatric neurologist at Mott and the lead author.

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