Associated Papers
Early mortality in STXBP1-related disorders.
Furia F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders.
Wang H et al.
Frontiers in Neurology, 2023
37056358 (PubMed )
Supplement: Table_1.XLSX › 203_non-canonical
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
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G et al.
Neurology. Genetics, 2022
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
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