Mayo Clinic Links SPTBN1 Gene Variants to Neurodevelopmental Disorder

Patients with SPTBN1-associated neurodevelopmental disorder experience language delays, motor delays, intellectual disability, seizures, and behavioral abnormalities that significantly impact development and quality of life.

For families caught in the long silence of unexplained neurological difference, a name can be a form of mercy. Mayo Clinic researchers, working with collaborators at the University of North Carolina at Chapel Hill, have identified variants in the SPTBN1 gene as the cause of a previously unnamed neurodevelopmental disorder — a discovery published in Nature Genetics and drawn from the study of 29 patients whose symptoms ranged from seizures to intellectual disability to language delay. The finding does not yet offer a cure, but it offers something nearly as profound: the end of not knowing, and

Mayo Clinic Links SPTBN1 Gene Variants to Neurodevelopmental Disorder

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