AANS Neurosurgeon | Volume 27, Number 3, 2018

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"Missing Mutation" Found in Severe Infant Epilepsy

Researchers have discovered a “missing mutation” in severe infant epilepsy—long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures. They also found early indications that specific anti-seizure medications might prevent disabling brain injury by controlling epilepsy during a crucial period shortly after birth. 

“These are still early days, but we may be able to use this knowledge to protect the newborn brain and improve a child’s long-term outcome,” said study leader Ethan M. Goldberg, MD, PhD, a pediatric neurologist at Children’s Hospital of Philadelphia. 

Goldberg collaborated with European and American researchers in this neurogenetic study of early infantile epileptic encephalopathy. 

The study focused on mutations in the gene SCN3A. Scientists already knew that the gene had a pattern of high expression in the brain, before and shortly after birth. Variants in SCN3A had also been previously linked to less severe forms of epilepsy, but the current research solidified this link and was the first to establish that SCN3A mutations cause the severe infantile form. 

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