Associated Papers
Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.
Qi L et al.
Medicine, 2026
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
Paternal mosaicism of an STXBP1 mutation in OS.
Saitsu H et al.
Clinical Genetics, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C et al.
Epilepsia, 2011
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