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
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA et al.
Nature Genetics, 2021
34211179 (PubMed )
Supplement: NIHMS1704971-supplement-Supplementary_Tables.xlsx › Supp._Table_2
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