Associated Papers
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
Uddin M et al.
G3 (bethesda, Md.), 2018
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N et al.
European Journal of Medical Genetics, 2015
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