For Immediate Release: Thursday, October 22, 2026, 1:30 p.m. U.S. Eastern Time
Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected]
Presented By: Gregory Costain, MD, PhD, on behalf of the Gene-STEPS study
Rockville, Md. – Epilepsy beginning in infancy frequently has an underlying genetic cause, but conventional testing pathways can be slow and fragmented. In a prospective international study of more than 500 infants, rapid genome sequencing provided a genetic diagnosis for 44% of participants, often producing information that could guide treatment or medical surveillance.
The Gene-STEPS study enrolled 515 infants younger than 12 months with new-onset epilepsy or complex febrile seizures of unknown cause. Participants were recruited from inpatient and outpatient settings across four countries with different healthcare systems. Clinically accredited laboratories performed rapid genome sequencing, typically returning results within three weeks.
Researchers diagnosed 228 infants, identifying changes across 111 genes or genomic regions. The findings highlighted the extensive genetic diversity of infantile-onset epilepsy. Five genes, PRRT2, SCN1A, KCNQ2, SCN8A, and SCN2A, accounted for 37% of diagnoses, while 82 diagnoses were each found in only one infant.
More than half of diagnoses had implications for treatment, surveillance, or both, giving clinicians an opportunity to tailor care early in the course of the condition. Preliminary analysis also suggested that 16% of diagnoses may be amenable to antisense oligonucleotide therapies, an emerging class of treatments designed to alter RNA activity. Advanced methods, including RNA sequencing and long-read genome sequencing, helped resolve additional cases among infants who initially remained undiagnosed.
The findings demonstrate that rapid genome sequencing can deliver clinically relevant diagnoses within a timeframe that supports early decision-making. Researchers conclude that it should be considered a first-line genetic test for infants with new-onset epilepsy.
About the American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.
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