Associated Papers
A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants.
Jang HN et al.
Genes, 2025
40869952 (PubMed )
Supplement: genes-16-00904-s001.zip › genes-3749915-supplementary.xlsx › Sheet1
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA et al.
American Journal of Medical Genetics. Part A, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA et al.
Nature Genetics, 2021
Select a paper to view details