A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Child Neurology"
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
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00631
Abstract: Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due… read more here.
Keywords: setd5 gene; kbg syndrome; gene; gene haploinsufficiency ... See more keywords