A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.

Abstract excerpt

Recent studies suggest a possible association between variants in SETD5 and epilepsy, particularly in individuals with intellectual disability and developmental delay. However, the current understanding of SETD5 function in epilepsy is limited. We describe a 6-year-old girl harboring a pathogenic SETD5 gene variant, disclosed in early infancy by whole exome sequencing that was performed for global developmental...

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