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
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Yuge K et al.
Brain & Development, 2018
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Olson HE et al.
American Journal of Medical Genetics. Part A, 2015
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