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
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C et al.
Epilepsia, 2015
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M et al.
Epilepsia, 2011
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