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
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G et al.
Neurology. Genetics, 2022
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_1
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016
A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
Romaniello R et al.
Journal of Child Neurology, 2014
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