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
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA et al.
American Journal of Medical Genetics. Part A, 2021
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