Associated Papers
Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.
Qi L et al.
Medicine, 2026
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
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.
Dong M et al.
Frontiers in Pediatrics, 2022
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J et al.
Molecular Brain, 2018
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