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
Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention-deficit/hyperactivity disorder.
O'Connell M et al.
American Journal of Medical Genetics. Part A, 2025
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA et al.
Nature Genetics, 2021
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L et al.
Molecular Genetics & Genomic Medicine, 2020
Select a paper to view details