A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant
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DOI: 10.1177/08830738251345038
Abstract: 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… read more here.
Keywords: gene variant; setd5 gene; pathogenic setd5; epilepsy ... See more keywords